Stanley Charles CV 1 2015 - Redactedh

UNIVERSITY OF PENNSYLVANIA - PERELMAN SCHOOL OF MEDICINE
Curriculum Vitae
Date: 01/05/2015
Charles A. Stanley, M.D.
Address:
Children's Hospital of Philadelphia

34th Street & Civic Center Blvd
Philadelphia, PA 19104 USA
(b) (6)
Education:
1964
1970
B.A.
M.D.
Harvard University (Biochemical Sciences)

University of Virginia School of Medicine (Medicine)
Postgraduate Training and Fellowship Appointments:

1970-1972
Resident in Pediatrics, Children's Hospital of Philadelphia
1972-1975
Fellowship in Metabolic Diseases, Children's Hospital of
Philadelphia
(b) (6)
Faculty Appointments:
1972-1976
1976-1982
1982-1989
1989-2011
2011-present
Instructor in Pediatrics, Department of Pediatrics, University of

Pennsylvania School of Medicine
Assistant Professor of Pediatrics, University of Pennsylvania
School of Medicine
Associate Professor of Pediatrics at the Children's Hospital of
Philadelphia, University of Pennsylvania School of Medicine
Professor of Pediatrics at the Children's Hospital of
Philadelphia, University of Pennsylvania School of Medicine
Emeritus Professor CE of Pediatrics, University of
Pennsylvania School of Medicine
Hospital and/or Administrative Appointments:

1975-1982
Associate Physician, Endocrine/Diabetes Division, Children's
Hospital of Philadelphia
1982-present
Senior Physician, Endocrine/Diabetes, Children's Hospital of
Philadelphia
1982-1994
Associate Director, General Clinical Research Center,
1994-2012
Core Laboratory Director, Clinical Translational Research
Center, Children's Hospital of Philadelphia
Page 2
2000-2008
Chief, Division of Endocrinology/Diabetes, Children's Hospital

of Philadelphia
Other Appointments:
[none]
Specialty Certification:
1976
1978
American Board of Pediatrics (19045)

Pediatric Endocrinology (200)
Licensure:
1970-present
Pennsylvania (MD-013278-E)
Awards, Honors and Membership in Honorary Societies:

[none]
Memberships in Professional and Scientific Societies and Other Professional Activities:
National:
1976-Present
Lawson Wilkins Pediatric Endocrine Society (Drug and Therapeutics Committee, 1997
- 2000; Board of Directors, 2005 - 2009; President, 2008 - 2009; Chair of the Awards
Committee, 2009)
1987-Present
American Diabetes Association (Philadelphia Affiliate, President of Professional

Section (1987-1988); member of Executive Committee)
2009-Present
Congenital Hyperinsulinism International (Scientific Advisory Board)

American Association for the Advancement of Science
American Pediatric Society
Association for Glycogen Storage Disease
Endocrine Society
John Morgan Society, University of Pennsylvania
Society for Inherited Metabolic Disorders
Society for Pediatric Research
Editorial Positions:
1981-Present
1983-Present
1985-Present
NICHD Site Visitor, Cleveland, Ohio

NIH Site Visitor, GCRC, Duke University
NIH Site Visitor, GCRC, Cleveland

1986-Present
1994-Present
2000-2008
2004-2010
2013-Present
Page 3
NIH Site Visitor, GCRC, Cincinnati
NIH Medical Biochemistry Study Section, Ad Hoc Reviewer
Associate Editor, Diabetes
Editorial Board, Journal of Pediatrics
FDA Endocrinology Metabolism Diabetes Advisory Committee
Academic and Institutional Committees:

1985-present
GCRC Advisory Committee (Ex officio)
1989-1997
CHOP Internal Review Board
2000-Present
DERC Executive Committee
Major Academic and Clinical Teaching Responsibilities:
[none]
Lectures by Invitation (Last 5 years):
Feb, 2010
"Genetic Disorders of Insulin Secretion in Infants: Over and Under",
Grand Rounds Baylor College of Medicine, Houston, TX
Mar, 2010
"Genetic Forms of Hyperinsulinemic Hypoglycemia in Neonates and
Children", Pediatric Grand Rounds, UMDNJ
May, 2010
"Congenital Hyperinsulinism Hypoglycemia: from bedside to bench",
Capital Medical University, Beijing Children's Hospital, Medical
Continued Educational Course and Pediatric Endo Forum, Beijing,
China
May, 2010
"GDH dysregulation in genetic forms of hyperinsulinemic
hypoglycemia" Symposium on Glutamate Dehydrogenase and
Human Disease and the Sixth Aegean Meeting on Neurological
Therapeutics, Heraklion, Crete, Greece
Jan, 2011
"Hypoglycemia", Neonatology Fellowship Physiology Lecture, The
Feb, 2011
"Diagnosis and management of neonatal hypoglycemia(s)", New
York University Pediatric Grand Rounds, New York
Feb, 2012
"Management of Glucose in the Preterm Infant",NEO Conference,
Orlando, FL
Mar, 2012
"Welcome, Introductions and Symposium Overview",
KATP-channel Hyperinsulinism Variations", Glucokinase
Hyperinsulinism", "Perinatal Stress Hyperinsulinism", Monogenic
Disorder of Insulin Secretion: Congenital Hyperinsulinism and
Neonatal Diabetes Symposium, The Children's Hospital of
Philadelphia
Apr, 2012
"Diagnosis and Management of Hypoglycemia in Infants and
Children", George H. Lowrey Lecture in Pediatric Endocrinology
Grand Rounds, University of Michigan, Ann Arbor, MI
Mar, 2013
"Monogenic Disorders of Hyperinsulinemic Hypoglycemia", Grand
Rounds, University of Chicago, Chicago, IL
May, 2013
"Hypoglycemia in High Risk Neonates" Neonatal Nursing
Symposium, The Children's Hospital of Philadelphia

Nov, 2013
Jan, 2014
Apr, 2014
Aug, 2014
Dec, 2014
Jan, 2015
Page 4
"Monogenic Disorders of Insulin Secretion: Congenital
Hyperinsulinism", NIH NICHD Grand Rounds, Bethesda, MD
"Hypoglycemia", Neonatal-Perinatal Fellows Physiology Course,
The Children's Hospital of Philadelphia
"Diagnosis and management of hypoglycemia in neonates, infants,
and children", Grand Rounds at Children's Hospital of Pittsburgh of
UPMC
"Monogenic disorders of hyperinsulinemic hypoglycemia in children
(and adults!)", Joint Adult-Pediatric Endocrinology Seminar, UPCM
"Strategies for management and discovery of congenital
hyperinsulinism disorders", Ped Endo Conference, Children's
Hospital of Pittsburgh
"Genetics and the History of Congenital Hyperinsulinism",
Congential Hyperinsulinism International Family Conference,
Gallaoway, NJ
The Hypoketotic Hypoglycemias: "(Holmes..the curious incident of
the dog in the night-time..." Pediatric Grand Rounds, The Children's
Hospital of Philadelphia
"Diagnosis and Management of Hypoglycemia in Neonates, Infants,
and Children" All Children's Hospital Grand Rounds, Johns Hopkins
Medicine, St. Petersburg, Florida
Organizing Roles in Scientific Meetings:

Jun, 2006
Symposium Director - Congenital Hyperinsulinism and Related
Disorders of Insulin Secretion: Clinical, Biochemical and Genetic
Advances.
Philadelphia, PA
Mar, 2012
Symposium Course Director - Monogenic Disorders of Insulin
Secretion: Congenital Hyperinsulinism and Neonatal Diabetes
The Children's Hospital of Philadelphia
Bibliography:
Research Publications, peer reviewed (print or other media):
1. Chun PW, Kim SJ, Stanley CA, Ackers G: Determination of the equilibrium constants of
associating protein systems III Evaluation of the weight fraction of monomer from
the weight-average partition coefficient (application to bovine liver glutamate
dehydrogenase). Biochem 8: 1625-1632, 1969.
2. Stanley CA, Baker L: Accidental poisoning with 50 percent glucose solution: The
danger of large stock bottles. J Pediatr 84: 270-71, 1974.
3. Ranke MB, Stanley CA, Robard D, Baker L, Bongiovanni A, Parks JS: Sex differences
in binding of human growth hormone to isolated rat hepatocytes. Proc Natl Acad
Sci USA 73: 847-51, 1976.
Page 5
4. Ranke MB, Stanley CA, Tenore A, Robard D, Bongiovanni AM, Parks JS:
Characterization of somatogenic and lactogenic binding sites in isolated rat
hepatocytes. Endocriniol 99: 1033-1045, 1976.
5. Stanley CA, Baker L: Hyperinsulinism in infancy: Diagnosis by demonstration of
abmornal response to fasting hypoglycemia. Pediatrics 57: 702-11, 1976.
6. Gauderer M, Stanley CA, Baker L, Bishop HC: Pancreatic adenomas in infants and
children: Current surgical management. J Pediatr Surg 13: 591-96, 1978.
7. Gardner DF, Kaplan MM, Stanley CA, Utiger RD: Effect of tri-iodothyronine
replacement on the metabolic and pituitary responses to starvation. N Engl J Med
300: 579-584, 1979.
8. Gardner DF, Sterling FH, Stanley CA: Pancreatic venography and plasma ketone
measurements in the diagnosis of hyperinsulinism. Am J Med Sci 277: 23-27,
1979.
9. Stanley CA, Anday EK, Baker L, Delivoria-Papadopoulos M : Metabolic fuel and
hormone reposes to fasting in newborn infants. Pediatrics 64: 613-19, 1979.
10. Stanley CA, Spielman RS, Zmijewski CM, Baker L: Wolfram syndrome not HLA
linked. N Engl J Med 301: 1389, 1979 Notes: letter to the editor.
11. Finegold DN, Stanley CA, Baker L: Glycemic response to glucagon during fasting
hypoglycemia: An aid in the diagnosis of hyperinsulinism. J Pediatr 96: 257-59,
1980.
12. Pereira GR, Fox WW, Stanley CA, Baker L, Schwartz MS: Decreased oxygenation and
hyperlipemia during intravenous fat infusions in premature infants. Pediatrics 66:
26-30, 1980.
13. Anday EK, Stanley CA, Baker L, Delivoria-Papadopoulos M: Plasma ketones in
newborn infants: Absence of suckling ketosis. J Pediatr 98: 628-30, 1981.
14. Slonim AE, Borum PR, Tanaka K, Stanley CA, Kasselberg AG, Greene HL, Burr IM:
Dietary-dependent carnitine deficiency as a cause of nonketotic hypoglycemia in
an infant. J Pediatr 99: 551-56, 1981.
15. Stanley CA, Mills JL, Baker L: Intragastric feeding in Type I glycogen storage disease:
Factors affecting the control of lactic acidemia. Pediatr Res 15: 1504-08, 1981.
16. Kenepp NB, Kumar S, Shelley WC, Stanley CA, Gabbe SG, Gutsche BB: Fetal and
neonatal hazards of maternal hydration with 5% dextrose before cesarean section.
Lancet 1: 1150-52, 1982.
Page 6
17. Kennedy TL, Stanley CA, Baker L, Norman ME: Propranolol-induced hypoglycemia
and hypertension in a child. Internat J Pediatr Nephrol 2: 255, 1982.
18. Stanley CA, Gonzales E, Baker L: Development of hepatic fatty acid oxidation and
ketogenesis in the newborn guinea pig. Pediatr Res 17: 224-29, 1983.
19. Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley RI, Gonzales
BS, Williamson JR, Baker L: Medium-chain acyl-CoA dehydrogenase deficiency
in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res
17: 877-84, 1983.
20. Wright LL, Stanley CA, Anday EK, Baker L: The effect of early feeding on plasma
glucose levels in SGA infants. Clin Pediatr 22: 539-41, 1983.
21. Yudkoff M, Nissim I, Stanley CA, Baker L, Segal S: Glycogen storage disease: Effects
of glucose infusions on (15N) glycine kinetics and nitrogen metabolism. J Pediatr
Gastroenterol Nutr 3: 81-88, 1984.
22. Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA: Genetic deficiency of
medium-chain acyl coenzyme a dehydrogenase. Studies in cultured skin
fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 19: 671-76, 1985.
23. Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA:
Long-chain acyl CoA dehydrogenase deficiency: an inherited cause of non-ketotic
hypoglycemia. Pediatr Res 19: 666-71, 1985.
24. Fromm M, Littman P, Raney RB, Nelson L, Handler S, Diamond G, Stanley CA: Late
effects after Treatment of twenty children with soft tissue sarcomas of the head and
neck. Cancer 57: 2070-76, 1986.
25. Koven NL, Clark MM, Cody CS, Stanley CA, Baker L, Douglas SD: Impaired
chemotaxis and neutrophil (polymorphonuclear leukocyte) function in
glycogenesis type IB. Pediatr Res 20: 438-42, 1986.
26. The DCCT Research Group: The diabetes control and complications trial (DCCT):
Design and methodologic considerations for the feasibility phase. Diabetes 35:
530-45, 1986.
27. Treem WR, Witzleben CA, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB:
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical,
pathologic, and ultrastructural differentiation from Reye's syndrome. Hepatology
6: 1270-78, 1986.
28. Van Dyke DC, Quinn GE, Bruce DA, Stanley CA: Clinical management
considerations in uncommon midline central nervous system anomalies. Dysmorph
Clin Genet 1: 6-11, 1987.
Page 7
29. Corkey BE, Hale DE, Glennon MC, Kelley RI, Coates PM, Kilpatrick L, Stanley CA:
Relationship between unusual hepatic acyl coenzyme A profiles and the
pathogenesis of Reye's syndrome. J Clin Invest 82: 782-788, 1988.
30. Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K: Medium chain
acyl-CoA dehydrogenase deficiency: Diagnosis by stable-isotope dilution
measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl
J Med 319: 1308-13, 1988.
31. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM: Primary carnitine
deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.
N Engl J Med 319: 1331-36, 1988.
32. Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA., Egler J, Olshan JS, Heyman S:
Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int 35:
1345-50, 1989.
33. Belik J, Wagerle LC, Stanley CA, Sacks LM, Hergert DW, Delivoria-Papadopoulis M:
Cerebral metabolic response and mitochondrial activity following insulin-induced
hypoglycemia in newborn lambs. Biol Neonate 55: 281-89, 1989.
34. Bergman I, Finegold D, Gartner JC, Zitelli BJ, Classen D, Scarano J, Roe CR, Stanley
CA, Goodman SI: Acute profound dystonia in infants with glutaric acidemia.
Pediatrics 83: 228-33, 1989.
35. Treem WR, Stanley CA: Massive hepatomegaly, steatosis, and secondary plasma
carnitine deficiency in an infant with cystic fibrosis. Pediatrics 83: 993-97, 1989.
36. Treem WR, Stanley CA, Goodman SI: Medium chain acyl-CoA dehydrogenase
deficiency: Metabolic effects and therapeutic efficacy of long-term L-carnitine
supplementation. J Inher Metab Dis 12: 112-19, 1989.
37. Kilpatrick L, Garty B-Z, Lundquist KF, Stanley CA, Baker L, Douglas SD, Korchak
HM: Impaired metabolic function and signaling defects in phagocytic cells in
glycogen storage disease type 1B. J Clin Invest 86: 196-202, 1990.
38. Baker L, Thornton PS, Stanley CA: Management of hyperinsulinism in infants. J
Pediatr 119: 755-758, 1991 Notes: editorial.
39. Bennett MJ, Hale DE, Coates PM, Stanley CA: Postmortem recognition of fatty acid
oxidation disorders. Peditr Path 11: 365-70, 1991.
Page 8
40. Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont J-P,
Saudubray J-M, Haymond M, Trefz FK, Breningstall GN, Wappner RS, Byrd DJ,
Sansaricq C, Tein I, Grover W, Valle D, Rutledge SL, Treem WR: Chronic
cardiomyopathy and weakness or acute coma in children with a defect in carnitine
uptake. Ann Neurol 30: 709-16, 1991.
41. Thornton PS, Summer AE, Ruchelli ED, Spielman RS, Baker L, Stanley CA: Familial
and sporadic hyperinsulinism: Histopathology and segregation analysis support a
single autosomal recessive disorder. J Pediatr 119: 721-24, 1991.
42. Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS: Hypoglycemia, hypotonia,
and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA
dehydrogenase deficiency. Pediatrics 87: 328-33, 1991.
43. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP: Brief report: a
deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial
membrane. N Engl J Med 327(1): 19-23, Jul 1992.
44. Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett MJ, Santer R, Stanley
CA: Detection and quantitation of acylcarnitines in plasma and blood spots from
patients with inborn errors of fatty acid oxidation. Prog Clin Biol Res 375: 355-62,
1992.
45. Stanley CA, Sunaryo F, Hale DE, Bonnefont JP, Demaugre F, Saudubray JM: Elevated
plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.
J Inherit Metab Dis 15(5): 785-9, 1992.
46. Restaino I, Kaplan BS, Stanley C, Baker L: Nephrolithiasis, hypocitraturia, and a distal
renal tubular acidification defect in type 1 glycogen storage disease. J Pediatr
122(3): 392-6, Mar 1993.
47. Schmidt-Sommerfeld E, Penn D, Duran M, Bennett MJ, Santer R, Stanley CA:
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of
plasma and blood spots with the radioisotopic exchange-high-performance liquid
chromatographic method. J Pediatr 122(5 Pt 1): 708-14, May 1993.
48. Stanley CA, Berry GT, Bennett MJ, Willi SM, Treem WR, Hale DE: Renal handling of
carnitine in secondary carnitine deficiency disorders. Pediatr Res 34(1): 89-97, Jul
1993.
49. McCawley LJ, Korchak HM, Cutilli JR, Stanley CA, Baker L, Douglas SD, Kilpatrick
L: Interferon-gamma corrects the respiratory burst defect in vitro in
monocyte-derived macrophages from glycogen storage disease type 1b patients.
Pediatr Res 34(3): 265-9, Sep 1993.
Page 9
50. Thornton PS, Alter CA, Katz LE, Baker L, Stanley CA: Short- and long-term use of
octreotide in the treatment of congenital hyperinsulinism. J Pediatr 123(4): 637-43,
Oct 1993.
51. Korchak HM, Garty BZ, Stanley CA, Baker L, Douglas SD, Kilpatrick L: Impairment
of calcium mobilization in phagocytic cells in glycogen storage disease type 1b.
Eur J Pediatr 152 Suppl : S39-43, 1993.
52. McCawley LJ, Korchak HM, Douglas SD, Campbell DE, Thornton PS, Stanley CA,
Baker L, Kilpatrick L: In vitro and in vivo effects of granulocyte
colony-stimulating factor on neutrophils in glycogen storage disease type 1B:
granulocyte colony-stimulating factor therapy corrects the neutropenia and the
defects in respiratory burst activity and Ca2+ mobilization. Pediatr Res 35(1):
84-90, Jan 1994.
53. Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, Jackson S,
Turnbull DM: Acute fatty liver of pregnancy and long-chain
3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 19(2): 339-45,
Feb 1994.
54. Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z,
Kaiser N, Thornton PS, Stanley CA, Spielman RS, Gogolin-Ewens K, Cerasi E,
Baker L, Rice J, Donis-Keller H, Permutt MA: Familial hyperinsulinism maps to
chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat Genet 7(2):
185-8, Jun 1994.
55. Baker L, Stanley CA: Neonatal hypoglycemia. Curr Ther Endocrinol Metab 5:
376-80, 1994.
56. Stayer SA, Steven JM, Nicolson SC, Jobes DR, Stanley CA, Baumgart S: The
metabolic effects of surface cooling neonates prior to cardiac surgery. Anesth
Analg 79: 834-39, 1994.
57. Glaser B, Chiu KC, Liu L, Anker R, Nestorowicz A, Cox NJ, Landau H, Kaiser N,
Thornton PS, Stanley CA, Cerasi E, Baker L, Donis-Keller H, Permutt MA:
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on
chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
Hum Mol Genet 4(5): 879-86, May 1995.
58. Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D: Glycine and
L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit
Metab Dis 18(3): 299-305, 1995.
59. Bennett MJ, Hale DE, Pollitt RJ, Stanley CA, Variend S: Endocardial fibroelastosis
and primary carnitine deficiency due to a defect in the plasma membrane carnitine
transporter. Clin Cardiol 19(3): 243-6, Mar 1996.
Page 10
60. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA,
Thornton PS, Clement JP, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the
sulonylurea receptor gene are associated with familial hyperinsulinism in
Ashkenazi Jews. Hum Mol Genet 5(11): 1813-22, Nov 1996.
61. Treem WR, Shoup ME, Hale DE, Bennett MJ, Rinaldo P, Millington DS, Stanley CA,
Riely CA, Hyams JS: Acute fatty liver of pregnancy, hemolysis, elevated liver
enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A
dehydrogenase deficiency. Am J Gastroenterol 91(11): 2293-300, Nov 1996.
62. Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau
KC, Wilcken B: First prenatal diagnosis of the carnitine transporter defect. Am J
Med Genet 66(1): 21-4, Dec 1996.
63. Lieu YK, Hsu BY, Price WA, Corkey BE, Stanley CA: Carnitine effects on coenzyme
A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases. Am J
Physiol 272(3 Pt 1): E359-66, March 1997.
64. Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS: A
syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr 130(4):
661-4, Apr 1997.
65. Chalmers RA, Stanley CA, English N, Wigglesworth JS: Mitochondrial
carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.
J Pediatr 131(2): 220-25, August 1997.
66. Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, Thornton PS, Baker L, Stanley
CA, Cohen P: Insulin-like growth factor binding protein-1 levels in the diagnosis of
hypoglycemia caused by hyperinsulinism. J Pediatr 131(2): 193-7, August 1997.
67. Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ: Sudden neonatal death in
carnitine transporter deficiency. J Pediatr 131(2): 304-5, Aug 1997.
68. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA: Fasting hypoketotic coma in a
child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
N Engl J Med 337(17): 1203-7, Oct 1997.
69. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H,
Stanley CA, Thornton PS, Seino S, Permutt MA: A nonsense mutation in the
inward rectifier potassium channel gene, Kir6.2, is associated with familial
hyperinsulinism. Diabetes 49(11): 1743-8, Nov 1997.
Page 11
70. Cheung VG, Gregg JP, Gogolin-Ewens KJ, Bandong J, Stanley CA, Baker L, Higgins
MJ, Nowak NJ, Shows TB, Ewens WJ, Nelson SF, Spielman RS:
Linkage-disequilibrium mapping without genotyping. Nat Genet 18(3): 225-30,
1998.
71. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton
PS, Permutt MA, Matschinsky FM, Herold KC: Familial hyperinsulinism caused
by an activating glucokinase mutation. N Engl J Med 338(4): 226-30, 1998.
72. Glaser B, Thornton PS, Herold K, Stanley CA: Clinical and molecular heterogeneity of
familial hyperinsulinism. J Pediatr 133(6): 801-2, 1998.
73. Iacobazzi V, Naglieri MA, Stanley CA, Wanders RJ, Palmieri F: The structure and
organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.
Biochem Biophys Res Commun 252(3): 770-4, 1998.
74. Katz LE, Satin-Smith MS, Collett-Solberg P, Baker L, Stanley CA, Cohen P: Dual
regulation of insulin-like growth factor binding protein-1 levels by insulin and
cortisol during fasting. J Clin Endocrinol Metab 83(12): 4426-30, 1998.
75. Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton
PS, Permutt MA: Genetic heterogeneity in familial hyperinsulinism. Hum Mol
Genet 7(7): 1119-28, 1998.
76. Stanley CA: Dissecting the spectrum of fatty acid oxidation disorders. J Pediatr 132(3
Pt 1): 384-86, 1998.
77. Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K,
Rich BH, Zammarchi E, Poncz M: Hyperinsulinism and hyperammonemia in
infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J
Med 338(19): 1352-57, 1998.
78. Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt
MA, Baker L, Stanley CA: Familial hyperinsulinism with apparent autosomal
dominant inheritance: clinical and genetic differences from the autosomal recessive
variant. J Pediatr 132(1): 9-14, 1998.
79. Weinzimer SA, Stanley CA: Reply. J Pediatr 133(6): 801, December 1998.
80. Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA:
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations
in familial hyperinsulinism. Hum Mutat 14(1): 23-9, 1999.
81. Glaser, B Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE, Thornton
PS: Hyperinsulinism caused by paternal-specific inheritance of a recessive
mutation in the sulfonylurea-receptor gene. Diabetes 48(8): 1652-57, 1999.
Page 12
82. Katz LE, Ferry RJ, Jr., Stanley CA, Collett-Solberg PF, Baker L, Cohen P. :
Suppression of insulin oversecretion by subcutaneous recombinant human
insulin-like growth factor I in children with congenital hyperinsulinism due to
defective beta-cell sulfonylurea receptor. J Clin Endocrinol Metab 84(9):
3117-24, 1999.
83. Lovvorn HN III, Nance ML, Ferry RJ Jr, Stolte L, Baker L, O'Neill JA Jr, Schnaufer L,
Stanley CA, Adzick NS: Congenital hyperinsulinism and the surgeon: lessons
learned over 35 years. J Pediatr Surg 34(5): 786-92, 1999.
84. Stanley CA, Baker L: The causes of neonatal hypoglycemia. N Engl J Med 340(15):
1200-01, 1999.
85. Ferry RJ Jr, Kelly A, Grimberg A, Koo-McCoy S, Shapiro MJ, Fellows KE, Glaser B,
Aguilar-Bryan L, Stafford DE, Stanley CA: Calcium-stimulated insulin secretion
in diffuse and focal forms of congenital hyperinsulinism. J Pediatr 137(2):
239-46, 2000.
86. Pierpont ME, Breningstall GN, Stanley CA, Singh A. : Familial carnitine transporter
defect: A treatable cause of cardiomyopathy in children. Am Heart J 139(2 Pt 3):
S93-S106, 2000.
87. Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B, Poncz M: Molecular basis
and characterization of the hyperinsulinism/hyperammonemia syndrome:
predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase
gene. HI/HA Contributing Investigators. Diabetes 49(4): 667-73, 2000.
88. Bouchard L, Robert MF, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard
JV, Quant P, Hsu BY, Boneh A, Boukaftane Y, Ashmarina L, Wang S, Miziorko H,
Mitchell GA: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
deficiency: clinical course and description of causal mutations in two patients.
Pediatr Res 2001 49(3): 326-31, 2001.
89. De Lonlay P, Benelli C, Fouque F, Ganguly A, Aral B, Dionisi-Vici C, Touati G,
Heinrichs C, Rabier D, Kamoun P, Robert JJ, Stanley C, Saudubray JM:
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated
patients. Pediatr Res 50(3): 353-57, 2001.
90. Grimberg A, Ferry RJ Jr, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, Permutt MA,
Aguilar-Bryan L, Stafford D, Thornton PS, Baker L, Stanley CA: Dysregulation of
insulin secretion in children with congenital hyperinsulinism due to sulfonylurea
receptor mutations. Diabetes 50(2): 322-28, 2001.
Page 13
91. Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F,
Ganguly A, Stanley CA: Aberrant mRNA splicing associated with coding region
mutations in children with carnitine-acylcarnitine translocase deficiency. Mol
Genet Metab 74(1-2): 248-55, 2001.
92. Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA:
Protein-sensitive and fasting hypoglycemia in children with the
hyperinsulinism/hyperammonemia syndrome. J Pediatr 138(3): 383-89, 2001.
93. Kelly A, Ng D, Ferry RJ Jr, Grimberg A, Koo-McCoy S, Thornton PS, Stanley CA:
Acute insulin responses to leucine in children with the
hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab 86(8):
3724-28, 2001.
94. MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM,
Ganguly A, Smith TJ, Stanley CA: Hyperinsulinism/hyperammonemia syndrome
in children with regulatory mutations in the inhibitory guanosine
triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol
Metab 86(4): 1782-87, 2001.
95. Smith TJ, Peterson PE, Schmidt T, Fang J, Stanley CA: Structures of bovine glutamate
dehydrogenase complexes elucidate the mechanism of purine regulation. J Mol
Biol 307(2): 707-20, 2001.
96. Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K,
Cvitanovic-Sojat L, Stanley C: Carnitine membrane transporter deficiency: a
long-term follow up and OCTN2 mutation in the first documented case of primary
carnitine deficiency. Mol Genet Metab 77(3): 195-201, 2002.
97. Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, Stanley CA: Expression,
purification and characterization of human glutamate dehydrogenase (GDH)
allosteric regulatory mutations. Biochem J 363(Pt 1): 81-87, 2002.
98. Smith TJ, Schmidt T, Fang J, Wu J, Siuzdak G, Stanley CA: The structure of apo
human glutamate dehydrogenase details subunit communication and allostery. J
Mol Biol 318(3): 765-77, 2002.
99. Suchi M, Thornton PS, Adzick NS, MacMullen C, Ganguly A, Stanley CA, Ruchelli
ED: Congenital hyperinsulinism: intraoperative biopsy interpretation can direct the
extent of pancreatectomy. Am J Surg Pathol 28(10): 1326-35, Jul-Aug 2003.
100. Banerjee S, Schmidt T, Fang J, Stanley CA, Smith TJ: Structural studies on ADP
activation of mammalian glutamate dehydrogenase and the evolution of regulation.
Biochemistry 42(12): 3446-56, 2003.
Page 14
101. Li C, Najafi H, Daikhin Y, Nissim IB, Collins HW, Yudkoff M, Matschinsky FM,
Stanley CA: Regulation of leucine-stimulated insulin secretion and glutamine
metabolism in isolated rat islets. J Biol Chem 278(5): 2353-58, 2003.
102. Suchi M, MacMullen C, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED:
Histopathology of congenital hyperinsulinism: retrospective study with genotype
correlations. Pediatr Dev Pathol 6(4): 322-33, 2003.
103. Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A,
Aguilar-Bryan L, Stanley CA: Clinical and molecular characterization of a
dominant form of congenital hyperinsulinism caused by a mutation in the
high-affinity sulfonylurea receptor. Diabetes 52(9): 2403-10, 2003.
104. Venditti LN, Venditti CP, Berry GT, Kaplan PB, Kaye EM, Glick H, Stanley CA:
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA
dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics 112(5):
1005-15, 2003.
105. Stanley CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P,
Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS: Preoperative
evaluation of infants with focal or diffuse congenital hyperinsulinism by
intravenous acute insulin response tests and selective pancreatic arterial calcium
stimulation. J Clin Endocrinol Metab 89(1): 288-96, January 2004.
106. Giurgea I, Laborde K, Touati G, Bellanne-Chantelot C, Nassogne MC, Sempoux C,
Jaubert F, Khoa N, Chigot V, Rahier J, Brunelle F, Nihoul-Fekete C, Dunne MJ,
Stanley C, Saudubray JM, Robert JJ, de Lonlay P: Acute insulin responses to
calcium and tolbutamide do not differentiate focal from diffuse congenital
hyperinsulinism. J Clin Endocrinol Metab 89(2): 925-929, February 2004.
107. Adzick NS, Thornton PS, Stanley CA, Kaye RD, Ruchelli E: A multidisciplinary
approach to the focal form of congenital hyperinsulinism leads to successful
treatment by partial pancreatectomy. J Pediatr Surg 39(3): 270-275, March
2004.
108. Li C, Buettger C, Kwagh J, Matter A, Daikhin Y, Nissim IB, Collins HW, Yudkoff M,
Stanley CA, Matschinsky FM: A signaling role of glutamine in insulin secretion. J
Biol Chem 279(14): 13393-401, April 2004.
109. Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley
CA: Familial leucine-sensitive hypoglycemia of infancy due to a dominant
mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab 89(9):
4450-56, September 2004.
Page 15
110. Cucchiaro G, Markowitz SD, Kaye R, Adzick NS, Litman RS, Stanley CA, Watcha
MF: Blood glucose control during selective arterial stimulation and venous
sampling for localization of focal hyperinsulinism lesions in anesthetized children.
Anesth Analg 99(4): 1044-48, October 2004.
111. Suchi M, Thornton PS, Adzick NS, MacMullen C, Ganguly A, Stanley CA, Ruchelli
ED: Congenital hyperinsulinism: intraoperative biopsy interpretation can direct the
extent of pancreatectomy. Am J Surg Pathol 28(10): 1326-35, Oct 2004.
112. Allen A, Kwagh J, Fang J, Stanley CA, Smith TJ. : Evolution of glutamate
dehydrogenase regulation of insulin homeostasis is an example of molecular
exaptation. Biochemistry 43(45): 14431-43, November 2004.
113. Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley
CA: Genotype-Phenotype Correlations in Children with Congenital
Hyperinsulinism Due to Recessive Mutations of the KATP Channel Genes. J Clin
Endocrinol Metab November 2004.
114. Kelly A, Li C, Gao Z, Stanley CA, Matschinsky FM: Glutaminolysis and insulin
secretion: from bedside to bench and back. Diabetes 51(Suppl 3): S421-26, 2004.
115. Gloyn AL, Odili S, Zelent D, Castleden HA, Steele AM, Stride A, Magnuson MA,
Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Barbetti F, Han
Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM: Insights into the
structure and regulation of glucokinase from a novel mutation (V62M) which
causes maturity-onset diabetes of the young. J Bio Chem January 2005.
116. Raizen DM, Brooks-Kayal A, Steinkrauss L, Tennekoon GI, Stanley CA, Kelly A:
Central nervous system hyperexcitability associated with glutamate dehydrogenase
gain of function mutations. J Pediatr 146(3): 388-94, March 2005.
117. Steinkrauss L, Lipman TH, Hendell CD, Gerdes M, Thornton PA, Stanley CA:
Effects of hypoglycemia on developmental outcome in children with congenital
hyperinsulinism. Journal of Pediatric Nursing 20(2), April 2005.
118. Hoe FM, Thornton PS, Wanner LA, Steinkrauss L, Simmons RA, Stanley CA:
Clinical features and insulin regulation in infants with a syndrome of prolonged
neonatal hyperinsulinism. J Pediatr 148(2): 207-12, Feb 2006.
119. Li C, Allen A, Kwagh J, Doliba N, Qin W, Najafi H, Collins HW, Matschinsky FM,
Stanley CA, Smith TJ: Green tea polypenols modulate insulin secretion by
inhibiting glutamate dehydrogenase. Ameri Soc for Biochem and Molec Biol, Inc.
Feb 13 2006.
Page 16
120. Lin YU, MacMullen C, Ganguly A, Stanley CA, Shyng SL: A novel KCNJ11
Mutation Associated with congenital hyperinsulinism reduces the intrinsic open
probability of beta-cell APT-sensitive potassium channels. J Biol Chem 281(5):
3006-12, Feb 2006.
121. Li C, Allen A, Kwagh J, Doliba N, qin W, Najafi H, Collins HW, Matschinsky FM,
Stanley CA, Smith TJ: Green tea polyphenols modulate insulin secretion by
inhibiting glutamate dehydrogenase. J Biol Chem 281: 10214-10221, April 2006.
122. Hussain K, Seppnen M, Nnt-Salonen K, Adzick NS, Stanley CA, Thornton P,
Minn H: The diagnosis of ectopic focal hyperinsulinism of infancy with
[18F]-Dopa Positron Emission Tomography. J Clin Endocrino Metabol 91(8):
2839-42, May 2006.
123. Li C, Matter A, Kelly A, Petty TJ, Najafi H, MacMullen C, Daikhin Y, Nissim I,
Lazarow A, Kwagh J, Collins HW, Hsu BYL, Nissim I, Yudkoff M, Matschinsky
FM, Stanley CA: Effects of a GTP-insensitive mutation of glutamate
dehydrogenase on insulin secretion in transgenic mice. J Biol Chem 281(22):
15064 - 72, June 2 2006.
124. Peranteau WH, Ganguly A, Steinmuller L, Thornton P, Johnson MP, Howel LJ,
Stanley CA, Adzick NS: Prenatal diagnosis and postnatal management of diffuse
congenital hyperinsulinism: a case report. Fetal Diagn Ther 21(6): 515-18, Sept 12
2006.
125. Fourtner SH, Stanley CA, Kelly A: Protein-sensitive hypoglycemia without leucine
sensitivity in hyperinsulinism caused by K(ATP) channel mutations. J Pediatr
149(1): 47-52, 2006.
126. Suchi M, MacMullen CM, Thornton PA, Adzick NS, Ganguly A, Ruchelli ED,
Stanley CA: Molecular and immunohistochemical analyses of the focal form of
congenital hyperinsulinism. Mod Path 19: 122-29, 2006.
127. Peranteau WH, Gathalii SM, Pawel B, Hardy O, Alavi A, Stanley CA, Adzick NS:
Multiple ectopic lesions of focal islet adenomatosis identified by positron emission
tomography scan in an infant with congenital hyperinsulinism. J Pediatr Surg
42(1): 188-92, Jan 2007.
128. Hardy OT, Hernandez-Pampaloni M, O'Rourke S, Wintering N, Saffer JR, Suchi M,
Ruchelli E, Zhuang H, Ganguly A, Freifelder R, Adzick NS, Alavi A, Stanley
CA: Diagnosis and localization of focal congenital hyperinsulinism by 18Ffluorodopa PET scan J Pediatr 150(2): 140-45, Feb 2007.
129. Masia R, Deleon DD, Macmullen C, McKnight H, Stanley CA, Nichols CG: A
mutation in the TMD0-L0 region of SUR1 (L225P) causes permanent neonatal
diabetes mellitus (PNDM). Diabetes Feb 22 2007.
Page 17
130. Yan FF, Lin YW, Macmullen C, Ganguly A, Stanley CA, Shyng SL: Congenital
hyperinsulinism-associated ABCC8 mutations that cause defective trafficking of
ATP-sensitive potassium channels: identification and rescue. Diabetes Jun 15
2007.
131. Hakonarson H, Grant SF, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R,
Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R,
Lu Y, Chiavacci RM, Stanley CA, Kirsch SE, Rappaport EF, Orange JS, Monos
DS, Devoto M, Qu HQ, Polychronakos C: A genome-wide association study
identifies KIAA0350 as a type 1 diabetes gene. Nature Aug 2 2007.
132. Hardy OT, Hernandez-Pampaloni M, Saffer JR, Scheuermann JS, Ernst LM,
Freifelder R, Zhuang H, MacMullen C, Becker S, Adzick NS, Divgi C, Alavi A,
Stanley CA: Accuracy of [18F]fluorodopa positron emission tomography for
diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol
Metab 92(12): 4706-4711, Dec 2007.
133. De Leon DD, Stanley CA: Permanent Neonatal Diabetes Mellitus. ReneReviews at
GeneTests Page: database online, Feb 2008.
134. Li C, Nissim I, Chen P, Buettger C, Najafi H, Daikhin Y, Nissim I, Collins HW,
Yudkoff M, Stanley CA, Matschinsky FM: Elimination of KATP channels in
mouse islets results in elevated [U-13C] glucose metabolism, glutaminolysis, and
pyruvate cycling but a decreased -aminobutyric acid shunt. J Biol Chem 285(25):
17238-49, June 2008.
135. Lin YW, Bushman JD, Yan FF, Haidar S, MacMullen C, Ganguly A, Stanley CA,
Shyng SL: Destabilization of ATP-sensitive potassium channel activity by novel
KCNJ11 mutations identified in congenital hypersinsulinism. J Biol Chem
283(25): 17238-49, Jun 20 2008.
136. Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A,
Shyng SL, Stanley CA: Clinical Characteristics and Biochemical Mechanisms of
Congenital Hyperinsulinism Associated with Dominant KATP Channel Mutations.
J Clin Invest 118(8): 2877-86, Aug 2008.
137. De Len DD, Li C, Delson MI, Matschinsky FM, Stanley CA, Stoffers DA:
Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering
cAMP in pancreatic beta-cells and inhibiting insulin secretion. J Biol Chem
283(38): 25786-93, Sept 19 2008.
138. Kelly A, Tang R, Becker S, Stanley CA: Poor specificity of low growth hormone and
cortisol levels during fasting hypoglycemia for the diagnoses of growth hormone
deficiency and adrenal insufficiency. Pediatrics 122(3): e522-2528, Sept 2008.
Page 18
139. Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback
SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E,
Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW,
Stanley CA, Kirsch SE, Waggott D, Paterson AD; The DCCT/EDIC Research
Group, Monos DS, Polychronakos C, Hakonarson H.: Follow up analysis of
genome-wide association data identifies novel loci for type 1 diabetes. Diabetes
58(1): 290-5, Jan 2009.
140. Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL: Sulfonylurea receptor 1 mutations
that cause opposite insulin secretion defects with chemical chaperone exposure. J
Biol Chem 284(12): 7951-9, Mar 2009.
141. Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R,
Grimsby J, Matschinsky FM, Stanley CA.: Extremes of clinical and enzymatic
phenotypes in children with hyperinsulinism due to glucokinase activating
mutations. Diabetes 58(6): 1419-27, Jun 2009.
142. Bushman JD, Gay JW, Tewson P, Stanley CA, Shyngs SL: Characterization and
functional restoration of a potassium channel Kir6.2 pore mutation identified in
congenital hyperinsulinism. J Biol Chem 285(9): 6012-23, Feb 2010.
143. Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V,
Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PMA, Glessner JT,
Walters T, Hou C, Kim C, Frankelton EC, Garris M, Doran J, Romano C, Ctassi C,
Van Limbergen J, Guthery S, Denson L, Piccoli D, Silverberg M, Stanley CA,
Monos D, Wilson DC, Griffiths A, Grant SFA, Satsangi J, Polychronakos C,
Hakonarson H: Comparative genetic analysis of inflammatory bowel disease and
type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet Feb
22 2010 Notes: Epub ahead of print.
144. Laje P, Halaby L, Adzick NS, Stanley CA: Necrotizing enterocolitis in neonates
receiving octreotide for the management of congenital hyperinsulinism. Pediatr
Diabetes 11(2): [Epub ahead of print] Mar 2010.
145. Dagli AI, Lee PJ, Correia CE, Rodriguez C, Bhattacharya K, Steinkrauss L, Stanley
CA, Weinstein DA: Pregnancy in glycogen storage disease type Ib: gestational care
and report of first successful deliveries. J Inherit Metab Dis Apr 13 2010 Notes:
[Epub ahead of print]
146. Laje P, Stanley CA, Adzick NS.: Intussusception after pancreatic surgery in children:
a case series. J Pediatr Surg 45(7): 1496-99, July 2010.
Page 19
147. Li C, Chen P, Palladino A, Narayan S, Russell LK, Sayed S, Xiong G, Chen J, Stokes
D, Butt YM, Jones PM, Collins HW, Cohen NA, Cohen AS, Nissim I, Smith TJ,
Strauss AW, Matschinsky FM, Bennett MJ, Stanley CA: Mechanism of
Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Involves Activation of Glutamate Dehydrogenase. J Biol Chem 285(41): 31806 18, Oct 2010.
148. Pingul MM, Hughes N, Wu A, Stanley CA, Gruppuso PA.: Hepatocyte nuclear factor
4 gene mutation associated with familial neonatal hyperinsulinism and
maturity-onset diabetes of the young. J Pediatr 158(5): 852-4, May 2011.
149. Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A,
Shyng SL, Stanley CA: Diazoxide-unresponsive congenital hyperinsulinism in
children with dominant mutations of the beta-cell sulfonylurea receptor SUR1.
Diabetes 60(6): 1797-804, June 2011.
150. Li C, Li M, Chen P, Narayan, S, Matschinsky FM, Bennett MJ, Stanley CA, Smith TJ:
Green Tea Polyphenols Control Dysregulated Glutamate Dehydrogenase in
Transgenic Mice by Hijacking the ADP Activation Site. J Biol Chem Aug 10 2011.
151. Doliba N, Li C, Qin W, Najafi H, Liu C, Buettger C, Weik-Collins H, Stanley CA,
Wilson DF, Grimsby J, Sarabu R, Naji A, Matschinsky FM: Glucokinase
Activation Repairs Defective Bioenergetics of Islets of Langerhans Isolated from
Type-2 Diabetics. Am J Physiol Endocrinol Metab Sept 27 2011.
152. Li M, Li C, Allen A, Stanley CA, Smith TJ.: The structure and allosteric regulation of
glutamate dehydrogenase. Neurochem Int. 59(4): 445-55, Sept 2011.
153. Doliba NM, Qin W, Najafi H, Liu C, Buettger CW, Sotiris J, Collins HW, Li C,
Stanley CA, Wilson DF, Grimsby J, Sarabu R, Naji A, Matschinsky FM:
Glucokinase activation repairs defective bioenergetics of islets of Langerhans
isolated from type 2 diabetics. Am J Physiol Endocrinol Metab 302(1): E87-E102.
Epub 2011 Sep 27, Jan 1 2012.
154. Laje P, Stanley CA, Palladino AA, Becker SA, Adzick NS.: Pancreatic head resection
and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of
congenital hyperinsulinism. J Pediatr Surg 47(1): 130-5, Jan 2012.
155. Stanley CA, et al: Genetic Disorders of the Beta Cell: a Symposium held at The
Children's Hospital of Philadelphia. Ped Diabetes 13: 344-368, June 2012.
156. Calabria AC, Li C, Gallagher PR, Stanley CA, De Len DD.: GLP-1 Receptor
Antagonist Exendin-(9-39) Elevates Fasting Blood Glucose Levels in Congenital
Hyperinsulinism Owing to Inactivating Mutations in the ATP-Sensitive K+
Channel. Diabetes 61(10): 2585-91, Oct 2012.
Page 20
157. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Len DD.: Novel presentations of
congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and
HNF4A. J Clin Endocrinol Metab 97(10): E2026-30, Oct 2012.
158. Narayan SB, Master SR, Sireci AN, Bierl C, Stanley PE, Li C, Stanley CA, Bennett
MJ: Short-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Associates with a
Protein Super-Complex Integrating Multiple Metabolic Pathways. PLoS ONE
7(4): e35048, 2012 Notes: doi:10.1371/hournal.pone.0035048.
159. Palladino Andrew A, Chen Jie, Kallish Staci, Stanley Charles A, Bennett Michael J:
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry:
acyl-CoA profiles in short-chain fatty acid oxidation defects. Mol Genet Metab
107(4): 679-83, Dec 2012.
160. Laje P, States LJ, Becker SA, Palladino AA, Stanley CA, Adzick NS: Accuracy of
PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. J
Pediatr Surg 48(2): 388-93, Feb 2013.
161. Li C, Liu C, Nissim I, Chen J, Chen P, Doliba N, Zhang T, Nissim I, Daikhin Y,
Stokes D, Yudkoff M, Bennett MJ, Stanley CA, Matschinsky FM, Naji A:
Regulation of Glucagon Secretion in Normal and Diabetic Human Islets by
Gamma-Hydroxybutyrate and Glycine. J Biol Chem 288(6): 3938-51, Feb 2013.
162. Snider K E, Becker S, Boyajian L, Shyng S-L, Macmullen C, Hughes N, Ganapathy
K, Bhatti T, Stanley C A, Ganguly A: Genotype and Phenotype Correlations in 417
Children With Congenital Hyperinsulinism. J Clin Endocrinol Metab 98(2):
E355-63, Feb 2013.
163. Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici,
Ventura A, Zhou Q, Stanley CA, Burlina A: Co-inheritance of two ABCC8
mutations causing an unresponsive congenital hyperinsulinism: Clinical and
functional characterization of two novel ABCC8 mutations. Gene 516(1): 122-5,
Mar 2013.
164. Huang T, Kelly A, Becker SA, Cohen MS, Stanley CA: Hypertrophic
cardiomyopathy in neonates with congenital hyperinsulinism. Arch Dis Child Fetal
Neonatal Ed. 98(4), Jul 2013 Notes: [Epub ahead of print]
165. Laje P, Palladino AA, Bhatti TR, States LJ, Stanley CA, Adzick NS: Pancreatic
surgery in infants with Beckwith-Wiedemann Syndrome and Hyperinsulinism. J
Pediatr Surg 48(12): 2511-16, Dec 2013.
166. Peranteau WH, Palladino AA, Bhatti TR, Becker SA, States LJ, Stanley CA, Adzick
NS: The surgical management of insulinomas in children. J Pediatr Surg 48(12):
2517-24, Dec 2013.
Page 21
167. Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K,

Boodhansingh K, Hughes N, Becker S, Givler S, Macmullen C, Monos D, Ganguly
A, Hakonarson H, Stanley CA.: Dominant Form of Congenital Hyperinsulinism
Maps to HK1 Region on 10q. Horm Res Paediatr 80(1): 18-27, 2013.
168. Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond
K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M,
Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D,
Stojkovic T, Laforet P, Petit F, Develaux I, Piraud M, Stanley CA, Matalon R,
Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de
Meirleir L, Vajro P, DeClue T, Ficicioglu C,Wada Y, Wevers RA, Vanderschaeghe
D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber
DJ, Marquardt T: Multiple phenotypes in phosphoglucomutase 1 deficiency. New
Eng J Med 370(6): 533-42, Feb 2014.
169.
170.
(b) (4)
(b) (4)
Research Publications, peer-reviewed reviews:

1. Li M, Li C, Allen A, Stanley CA, Smith TJ.: The structure and allosteric regulation of
mammalian glutamate dehydrogenase. Arch Biochem Biophys 519(2): 69-80, Mar
15 2012.
Contributions to peer-reviewed research publications, participation cited but not by
authorship:
[none]
Research Publications, non-peer reviewed:
[none]
Abstracts (Last 3 years):
1. Conlin LK, Thiel BD, Mulchandani S, Kalish JM, Snider KE, Bhatti TR, Ernst LM,
Biegel JA, Spinner NB, Stanley CA, Deardorff MA: Detection and quantification
of mosaic isodisomy in Beckwith-Wiedemann patients using SNP arrays.
"Monogenic Disorders of Insulin Secretion: Congenital Hyperinsulinism and
Neonatal Diabetes" Symposium, The Children's Hospital of Philadelphia March
2012.
Page 22
2. Hughes N, Snider K, Carrie Coleman-Campbell C, Sayed S, Shen G, Boyajian L,

Ganguly A, Stokes D, Stanley CA: Mitochondrial Uncoupling Protein 2 (UCP2)
Mutations in CHOP Hyperinsulinism (HI) Patients. "Monogenic Disorders of
Insulin Secretion: Congenital Hyperinsulinism and Neonatal Diabetes"
Symposium, The Children's Hospital of Philadelphia March 2012.
3. Kalish JM, Snider K, Conlin KL, Bhatti T, Ganguly A, Stanley CA, Deardorff MA: The
Spectrum of Hyperinsulinism in Mosaic Beckwith-Wiedemann Syndrome:
Dissection of 11p15 Paternal Uniparental Isodisomy. "Monogenic Disorders of
4. Li C, Patel P, Zhang T, Chen P, Givler S, Liu C, Nissim I, Naji A, Matschinsky FM, De
Leon DD, Stanley CA: [U-13C]-glucose metabolism in islets from infants with
KATP hyperinsulinism. "Monogenic Disorders of Insulin Secretion: Congenital
Hyperinsulinism and Neonatal Diabetes" Symposium, The Children's Hospital of
Philadelphia March 2012.
5. Lord K, Snider K, MacMullen C, Becker S, Ganguly A, Stanley CA: "Missing"
Mutations: Post-zygotic Mosaicism in Congenital Hyperinsulinism. "Monogenic
Disorders of Insulin Secretion: Congenital Hyperinsulinism and Neonatal
Diabetes" Symposium, The Children's Hospital of Philadelphia March 2012.
6. Patel P, Li C, Givler S, Matschinsky F, Stanley CA, De Leon DD: Functional Evaluation
of Islets from Infants with KATP Hyperinsulinism. "Monogenic Disorders of
7. Pinney SE, Ganapathy K, Bradfield J, Givler S, Becker S, Hughes N, Stokes D, Stanley
CA: Novel form of Autosomal Dominant Hyperinsulinism Maps to Chromosome
10q21. "Monogenic Disorders of Insulin Secretion: Congenital Hyperinsulinism
and Neonatal Diabetes" Symposium, The Children's Hospital of Philadelphia
March 2012.
8. Snider KE, Ganguly A, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N,
Ganapathy K, Bhatti T, Lee A, Stanley CA: Genotype-phenotype correlation in 440
children with congenital hyperinsulinism (HI). "Monogenic Disorders of Insulin
Secretion: Congenital Hyperinsulinism and Neonatal Diabetes" Symposium, The
Children's Hospital of Philadelphia March 2012.
9. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD: Novel Presentations of
Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and
HNF4A. "Monogenic Disorders of Insulin Secretion: Congenital
Page 23
10. States LJ, Becker S, Zhuang H, Adzick NS, Stanley CA: Detection of a Focal Lesion of
Congenital Hyperinsulinism using 18[F]-DOPA PET/CT: Lessons learned from
100 consecutive studies with histologic confirmation performed at the Children's
Hospital of Philadelphia. "Monogenic Disorders of Insulin Secretion: Congenital
11. Bennett MB, Narayan SB, Master SR, Sireci A, Bierl C, Stanley PE, Li C, Stanley CA:
SCHAD Associates with a Protein Complex Centered on Glutamate Metabolism.
Poster at International Congress of Inborn Errors of Metabolism, Barcelona, Spain
Sept 2012.
12. Peranteau WH, Palladino AA, Bhatti TR, Stanley CA, Adzick NS: The Surgical
Management of Insulinomas. American Academy of Pediatrics, New Orleans
October 2012.
13. Bennett MB, Narayan SB, Master SR, Beri C, Stanley PE, Li C, Stanley CA: SCHAD
Associates with a Protein Complex Centered on Glutamate Metabolism. Poster at
International Congress of Inform Errors of Metablism, Barcelona, Spain 2012.
PET/CT scan in the diagnosis of the focal form of congenital hyperinsulinism.
British Association of Pediatric Surgeons 2012.
PET/CT scan in the diagnosis of the focal form of congenital hyperinsulinism.
British Association of Pediatric Surgeons 2012.
16. Peranteau WH, Palladino AA, Bhatti TR, Stanley CA, Adzick NS: The Surgical
Management of Insulinomas. American Academy of Pediatrics, New Orleans, LA
2012.
17. Ferrara CT,Stanley CA, Kelly A: Hyperinsulinism Profile: Emerging Biomarkers for
Diagnosing Disease. Poster presentation. Pediatric Academic Society/Pediatric
Endocrine Society Meeting, Washington, DC May 2013.
18. Misfeldt AA, Freeze HH, Morava E, Ficicioglu C, Stanley CA : Hypoglycemia and
Increased Insulin Secretion in a New Form of Glycogen Storage Disease Due to
Phosphoglucomutase-1 Deficiency. Platform presentation. Pediatric Academic
Society/Pediatric Endocrinology Society Meeting. Washington, DC May 2013.
19. Li CH, Patel P, Givler S, Liu CY, Matschinsky F, Naji A, Stanley CA, De Leon DD:
Functional and Metabolic Evaluation of Islets from Infants with KATP
Hyperinsulinism. 2014 Mid-Atlantic Diabetes Research Symposium, Poster
presentation, NIH January 2014.
Page 24
20. Kalish JM, Boodhansingh K, Conlin LK, Bhatti T, Ganguly A, Bartolomei M,

Palladino A, Adzick NS, Stanley CA, De Leon DD, Deardorff MA: The Spectrum
of Hyperinsulinism in Mosaic Beckwith-Wiedemann Syndrome: Dissection of
11p15 Paternal Uniparental Isodisomy. Research Poster Day, Children's Hospital
of Philadelphia Feb 2014.
21. Bhatti T, Ganapathy K, Huppmann A, Conlin L, Ernst L, MacMullen C, Becker S,
Ganaguly A, Stanley CA, Ruchelli E: Spectrum Of Histopathologic and Molecular
Features Of Pediatric Insulinomas. 2014 Spring Symposium and Kroc Lecture,
Institute for Diabetes, Obesity, and Metabolism, Perlman School of Medicine,
University of Pennsylvania April 2014 Notes: This poster won the Outstanding
poster award for patient-oriented research in the basic science category.
22. Ferrara CT, Boodhansingh KE, Hughes N, Givler S, Ganguly A, Palmieri F, Stanley
CA: Mitochondrial Uncoupling Protein 2 (UCP2) mutations underlying congenital
hyperinsulinism (HI). 2014 Spring Symposium and Kroc Lecture, Institue of
Diabetes, Obesity, and Metabolism, Perlman School of Medicine, University of
Pennsylvania April 2014.
23. Li CH, Misfeldt A, Patel P, Boodhansingh K, Palladino A, Bhatti TR, Adzick NS,
Stanley CA, De Leon DD: KATP channel dysfunction in beta-cell leads to
hypoglycemia in Beckwith-Wiedemann syndrome. American Diabetes Association
74th Annual Meeting for poster presentation, San Francisco June 2014.
24.
(b) (4)
Editorials, Reviews, Chapters, including participation in committee reports (print or other

media):
1. Stanley CA, Baker L: Hyperinsulinism in infancy: Diagnosis by demonstration of
abnormal response to fasting hypoglycemia. Pediatrics 57: 702-711, 1976.
2. Baker L, Stanley CA: Hyperinsulinism in infancy: A patho-physiologic approach to
diagnosis and treatment. Rec Prog Pediatr Endocrinol. G. Chiumello (eds.).
Academic Press, New York, Page: 89-100, 1977.
3. Stanley CA, Baker L: Hyperinsulinism in infants and children. Pediatr Clin North Am
44: 363-374, 1977.
4. Baker L, Stanley CA: Diabetes in childhood. Endocrinology Metabolic Basis of
Clinical Practice. DeGroot l, Winegrad AI (eds.). Grune and Stratton, New York,
Page: 1057-1060, 1978.
5. Stanley CA, Baker L: Hypoglycemia. Core Textbook of Pediatrics. Kaye R, Oski F,
Barness L (eds.). J.B. Lippincott Co., Philadelphia, Page: 280-305, 1978.
Page 25
6. Stanley CA: Intragastric feeding in glycogen storage disease and other disorders of
fasting. Nutrition in Pediatrics. Walker WA, Watkins JB (eds.). Little, Brown &
Co, Boston, Page: 781-794, 1985.
7. Stanley CA, Coates PM: Inherited defects of fatty acid oxidation which resemble Reye's
syndrome. J Natl Reye's Syndrome Fndn 5: 190-200, 1985.
8. Marx B, Stanley CA: Diabetes. Principles and Practice of Clinical Pediatrics. Schwartz
MW, Ludwig S, Curry TA, Charney EB (eds.). Yearbook Med Publish, Chicago,
Page: 348-354, 1987.
9. Stanley CA: A 3-month old infant with a seizure. Clini-Pearls, Creative Medical
Publications, Inc., New York 4: 1-4, 1987.
10. Stanley CA: New genetic defects in mitochondrial fatty acid oxidation and carnitine
deficiency. Adv Pediatr(34), 59-88, 1987.
11. Treem W, Coates P, Stanley, CA: Genetically determined abnormalities of
mitochondrial fatty acid oxidation. Am Assoc for the Study of Liver Disease,
Annual Course Syllabus 1988.
12. Hale DE, Stanley CA, Coates PM: The long-chain acyl-CoA dehydrogenase
deficiency. Prog Clin Biol Res 321: 303-311, 1990.
13. Hale DE, Stanley CA, Coates PM: Genetic defects of acyl-CoA dehydrogenases:
Studies using an electron transfer flavoprotein reduction assay Prog Clin Biol Res
321: 333-348, 1990.
14. Marx B, Stanley CA: Diabetes Mellitus. Pediatric Primary Care. Schwartz MW,
Charney EB, Curry TA, Ludwig S (eds.). Yearbook Medical Publishers, Chicago,
Page: 423-429, 1990.
15. Stanley CA: Disorders of fatty acid oxidation. Inborn Metabolic Diseases Diagnosis
and Treatment. Fernandes J, Bremer E, Saudubray J-M (eds.). Springer Verlag,
Page: 394-410, 1990.
16. Stanley CA, Hale DE, Coates PM: Medium-chain acyl-CoA dehydrogenase deficiency.
Prog Clin Biol Res(321), 291-302, 1990.
17. Stanley CA, Treem WR, Hale DE, Coates PM: A genetic defect in carnitine transport
causing primary carnitine deficiency. Prog Clin Biol Res 321: 457-464, 1990.
18. Baker L, Thornton PS, Stanley CA: Management of hyperinsulinism in infants J. Peds
(Editorial Commentary) 119: 755-757, 1991.
Page 26
19. Bennett MJ, Hale DE, Coates PM, Stanley CA: Postmortem recognition of fatty acid
oxidation disorders. Pediatric Pathology 11: 361-366, 1991.
20. Stanley CA: Disorders of carbohydrate metabolism. Pediatric Gastrointestinal Disease.
Walker WA, et al (eds.). BC Decker, Philadelphia, Page: 936-943, 1991.
21. Stanley CA: Neonatal carnitine metabolism. Principles of Neonatal Metabolism.
Cowett RM (eds.). Springer Verlag, Page: 465-471, 1991.
22. Coates PM, Stanley CA: Inherited disorders of mitochondrial fatty acid oxidation. Prog
Liver Dis 10: 123-38, 1992.
23. Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett MJ, Santer R, Stanley
CA: Detection and quantitation of acylcarnitines in plasma and blood spots from
patients with inborn errors of fatty acid oxidation. Prog Clin Biol Res 375: 355-362,
1992.
24. Stanley CA: Plasma and mitochondrial membrane carnitine transport defects. Prog
Clin Biol Res 375: 289-300, 1992.
25. Stanley CA: Disorders of fatty acid oxidation Nelson Textbook of Pediatrics W.B.
Sauders, Philadelphia, 14th edition, Page: 336-338, 1992.
26. Thornton PS, Berry GT, Stanley CA: Disorders of intermediary metabolism: Organ
system failure. Pediatric Critical Care. Holbrook P (eds.). Page: 725-740, 1992.
27. Stanley CA: Familial hyperinsulinism: Successful conservative management. 1993
Yearbook of Pediatrics(Editorial Commentary) 1993.
28. Stanley CA, Hale DE: Genetic disorders of mitochondrial fatty acid oxidation. Curr
Opin Pediatr 6(4): 476-81, Aug 1994.
29. Stanley CA: Disorders of fatty acid oxidation. Inborn Metabolic Diseases: Diagnosis
and Treatment, 2nd Edition. Fernandes J, Saudubray JM, Van Den Berghe T
(eds.). Springer-Verlag, Berlin, Heidenberg, New York, Page: 133-143, 1994.
30. Stanley CA: Defects in metabolism of lipids: Disorders of Mitochondrial Fatty Acid
Oxidation. Nelson Textbook of Pediatrics, 15th Edition. Behrman RE, Kliegman
RM, Arvin AM, Nelson WE (eds.). WB Saunders, Philadelphia, Page: 360-363,
1994.
31. Stanley CA: Carnitine disorders. Adv Pediatr 42: 209-42, 1995.
32. Stanley CA: Medium-chain acyl-CoA dehydrogenase deficiency. Neurobase. Arbor
Publishing Company, 1995.
Page 27
33. Stanley CA: Carnitine/acylcarnitine translocase deficiency. Neurobase. Arbor

34. Stanley CA: Carnitine palmitoyl transferase-1 (CPT-1) deficiency. Neurobase. Arbor
35. Katz L, Stanley CA: Disorders of Glucose and Other Sugars. Intensive Care of the
Fetus and Neonate. Philadelphia, Mosby - Yearbook, Page: 982-992, 1996.
36. Stanley CA: Hyperinsulinism in infants and children. Pediatr Clin North Am 44(2):
363-74, Apr 1997.
37. Baker L, Stanley CA: Neonatal hypoglycemia. Curr Ther Endocrinol Metab 6: 409-13,
1997.
38. Satin-Smith MS, Stanley CA: Diabetes mellitus. Pediatric Primary Care. Schwartz
MW, Charney EB, Curry TA, Ludwig S (eds.). Yearbook Medical Publishers,
Chicago, Page: 523-529, 1997.
39. Stanley CA, Baker L: Definition of hypoglycemia in the neonatal period. Curr Ther
Endocrinol Metab 6: 409-413, 1997.
40. Nestorowicz A, Stanley CA, Landau H, Glaser B, Permutt MA: Familial
hyperinsulinism in Ashkenazi Jews. Advances in Jewish Genetic Diseases.
Desnick RJ (eds.). 1998.
41. Permutt MA, Chui K, Ferrer J, Glaser B, Inoue H, Nestorowicz A, Stanley C, Tanizawa
Y: Genetics of Type II Diabetes. Recent Prog Horm Res 53: 201-215, 1998.
42. Stanley CA: Dissecting the spectrum of fatty acid oxidation disorders. J Pediatr
(editorial) 132: 384-386, 1998.
43. Stanley CA: Defects in Metabolism of Lipids. Endocrinology, Chapter 72, 90, 94, 96,
98 Pediatrics at a Glance, 1998.
44. Stanley CA: Defects in Metabolism of Lipids. Nelson Textbook of Pediatrics 1998.
45. Stanley CA: Neonatal carnitine metabolism. Principles of Neonatal Metabolism, 2nd
Edition. Cowett RM (eds.). Springer Verlaq, 1998.
46. Satin-Smith MS, Stanley CA: Hypoglycemia. Gellis and Kagan's Current Pediatric
Therapy. W.B. Saunders, 16: 772-774, 1999.
Page 28
47. Stanley CA: The hyperinsulinism-hyperammonemia syndrome: gain-of-function

mutations of glutamate dehydrogenase. Genetic Insights in Pediatric
Endocrinology and Metabolism. O'Rahilly S, Dunger DB (eds.). Bristol:
BioScientifica, Ltd, Page: 23-30, 1999.
48. Stanley CA, Baker L: The causes of neonatal hypoglycemia N Engl J Med 340:
1200-1201, 1999.
49. Ferry RJ, Kelly A, Stanley CA: The hyperinsulinism/hyperammonemia syndrome.
Home page of The Japanese Pediatric Endocrinology Society (Tokyo, Japan
(www.pnu.cojp/gh) 86: 1782-87, 2000.
50. Stanley CA: Disorders of carbohydrate metabolism. Pediatric Gastrointestinal Disease.
Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, Watkins JB (eds.).
Philadelphia: Decker, Chapter 60, 2000.
51. Stanley CA: Lethargy and vomiting in a 14 month-old boy. Pediatrics: A
Problem-Based Review. Burg FD, Vaughan VC, Nelson KG (eds.). W.B. Saunders
Company, Philadelphia, Page: 232-235, 2000.
52. Stanley CA: Hypoglycemia. Essence of Office Pediatrics. Stockman JA, Lohr JA
(eds.). WB Saunders, Page: 213, 2000.
53. Stanley CA: Disorders of fatty acid oxidation. Inborn Metabolic Diseases (Third
Edition). Fernandes J, Saudubray JM, van den Berghe (eds.). Heidelberg:
Springer-Verlag, Page: 139-150, 2000.
54. Stanley CA, Alter C, Thornton PS, Katz LL, Weinzimer S, Kelly A, et al:
Hypoglycemia. YourDoctor.Com. Stanley CA, section editor, Rosenfeld R, editor,
Robert Parry, M.D. Executive Editor (eds.). 2000.
55. Stanley CA, Thornton PS: Leucine-sensitive hypoglycemia unraveled. Topical
Endocrinology. ; Chapterhouse Codex, Ltd Page: 9-12, December 2000.
56. Kelly A, Stanley CA: Disorders of glutamate metabolism. Ment Retard Dev Disabil
Res Rev 7(4): 287-95, 2001.
57. Ng DD, Ferry RJ, Jr., Kelly A, Weinzimer SA, Stanley CA, Katz LE. : Acarbose
treatment of postprandial hypoglycemia in children after Nissen fundoplication. J
Pediatr 139(6): 877-79, 2001.
58. Stanley CA: Advances in diagnosis and treatment of hyperinsulinism in infants and
children. J Clin Endocrinol Metab 87(11): 4857-59, 2002.
Page 29
59. Stanley, CA, Thornton, PS, Finegold, DN, Sperling, MA: Hypoglycemia in Neonates
and Infants. 2nd Edition of Pediatric Endocrinology. Mark A. Sperling, M.D (eds.).
WB Saunders, 7: 135-159, 2002.
60. Thornton PA, Finegold DN, Stanley CA: Hypoglycemia in the Infant and Child. 2nd
Edition of Pediatric Endocrinology. Mark A. Sperling, M.D. (eds.). WB Saunders,
13: 367-384, 2002.
61. Stanley CA: Hypoglycemia. Pediatric Endocrinology: A Practical Clinical Guide. S.
Radovick & M.H. MacGillivray (eds.). Humana Press Inc, Page: 511-521, 2003.
62. Stanley CA, Caplin N: Pathophysiology of Hypoglycemia. 3rd Edition of Fetal and
Neonatal Physiology. Polin, Fox, & Abman (eds.). WB Saunders 51: 494-499,
2003.
63. Stanley CA: Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory
role of glutamate dehydrogenase in ammonia metabolism. Mol Genet Metab(81
Suppl 1), S45-51, Apr 2004.
64. Hussain K, Aynsley-Green A, Stanley CA: Medications used in the treatment of
hypoglycemia due to congenital hyperinsulinism of infancy (HI). Pediatr
Endocriniol Rev(2 Suppl 1), 163-7, Nov 2004.
65. Stanley CA: Carnitine deficiency disorders in children. Ann N Y Acad Sci 1033: 42-51,
November 2004.
66. Fourtner SH, Stanley CA: Genetic and Nongenetic Forms of Hyperinsulinism in
Neonates. NeoReviews 5(9): 370-76, 2004.
67. Kelly A, Changhong L, Stanley CA: Glucokinase/glutamate dehydrogenase
interactions in the GDH form of congenital hyperinsulinism. Glucokinase and
Glycemic Disease: From Basics to Novel Therapeutics. Front Diabetes.
Matschinsky FM & Magnuson MA (eds.). Basel Karger, Page: 110-24, 2004.
68. Stanley CA: Carnitine Deficiency Disorders in Children. Annals of the New York
Academy of Sciences 1033: 42-51, 2004.
69. Stanley CA: Hypoglycemia. 2nd Edition of Practical Strategies in Pediatric Diagnosis
and Therapy Greenbaum, Lye (eds.). Kliegman, 61: 1121-31, 2004.
70. Stanley CA, Pallotto EK: Disorders of Carbohydrate Metabolism. 8th Edition of
Avery's Diseases of the Newborn. H. William Taeusch, M.D., Roberta A. Ballard,
M.D., Christine A. Gleason, M.D. (eds.). WB Saunders, 93: 1410-22, 2004.
Page 30
71. Katz LL, Stanley CA: Disorders of Glucose and Other Sugars. Intensive Care of The
Fetus & Neonate, 2nd Edition Spitzer MD, Alan (eds.). Elsevier, Inc, Page:
1167-78, Apr 2005.
72. DeLeon DD, Stanley CA: When to Screen for Neonatal Hypoglycemia. When to
Screen in Obstetrics and Gynecology, 2nd Edition. Wildschut, Weiner, Peters
(eds.). Saunders Elsevier, 40: 483-490, 2006.
73. Hardy OT, Stanley CA: Hyperinsulinism of Infancey: Localization of Focal Forms.
Practical Pediatric PET Imaging. Martin Charron, M.D., FRCP (eds.). Springer,
26B: 479-484, 2006.
74. Stanley CA: Parsing ketotic hypoglycaemia. Archieves of Disease in Childhood 6,
2006.
75. Stanley CA: Hypoglycemia in the neonate. Pediatr Endocrinol Rev(4 Suppl 1), 76-81,
Dec 2006.
76. Stanley Ca, Bennett MJ, Mayatepek E: Disorders of Mitochondrial Fatty Acid
Oxidation and Related Metabolic Pathways. Inborn Metabolic Diseases: Diagnosis
and Treatment. John Fernandes, Jean-Marie Saudubray, Georges van den Berghe
and John H. Walter (eds.). Springer Medizin Verlag Heidelberg, Germany, 4th
edition: 175-190, 2006.
77. De Leon D, Stanley CA: Mechanisms of Disease: advances in diagnosis and treatment
of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metabol(3), 57-68, Jan
2007.
78. Stanley CA, Bennett MJ: Disorders of Mitochondiral Fatty Acid Oxidation. Nelson
Textbook of Pediatrics. Kliegman, Behrman, Jenson, Stanton (eds.). Saunders
Elsevier, 18th Edition: 567-72, 2007.
79. Palladino AA, Bennett MJ, Stanley CA: Hyperinsulinism in infancy and childhood:
when an insulin level is not always enough. Clin Chem 54(2): 256-63, Feb 2008.
80. Smith TJ, Stanley CA: Untangling the glutamate dehydrogenase allosteric nightmare.
Trend Biochem Sci 33(11): 557-64, Nov 2008.
81. Kelly A, Stanley CA: Neurological aspects in hyperinsulinism-hyperammonaemia
syndrome. Developmental Medicine & Child Neurology 50(12): 888, Dec 2008.
82. Kelly A, Stanley CA: Hyperinsulinism. Pediatric Endocrinology and Inborn Errors of
Metabolism. Sarafoglou K (eds.). McGraw Hill, Page: 39-50, 2008.
Page 31
83. Palladino AA, Bennett MJ, Stanley CA: Hyperinsulinism in infancy and childhood:
when an insulin level is not always enough. Ann Bio Clin 67(3): 245-54, May-Jun
2009.
84. Stanley CA: Regulation of glutamate metabolism and insulin secretion by glutamate
dehydrogenase in hypoglycemic children. Am J Clin Nutr 90(3): 862S-866S, Sept
2009.
85. Bennett M, Stanley CA: Carnitine palmitoyl transferase II deficiency. orphanet
ORPHA157, April 2010.
86. Bennett M, Stanley CA: Carnitine palmitoyl transferase II deficiency, neonatal form.
orphanet ORPHA228308, May 2010.
87. Bennett M, Stanley CA: Carnitine palmitoyl transferase II deficiency myopathic form.
orphanet ORPHA228302, May 2010.
88. Bennett M, Stanley CA: Carnitine palmitoyl transferase II deficiency, severe infantile
form. orphanet ORPHA228305, May 2010.
89. Thornton PS, Stanley CA, De Len D, Kelly A, Sperling MA, Wolfsdorf JI, Haymond
M: Research initiatives in neonatal hypoglycemia. J Pediatr 156(5): 862-3, May
2010.
90. Palladino AA, Stanley CA: The hyperinsulinism/hyperammonemia syndrome. Rev
Endocr Metab Disord 11(3): 171-178, Sep 2010.
91. Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T.: Rare forms of
congenital hyperinsulinism. Semin Pediatr Surg 2011 20(1): 38-44, Feb 2011.
92. Laje P, Halaby L, Adzick NS, Stanley CA: Necrotizing enterocolitis in neonates
receiving octreotide for the management of congenital hyperinsulinism. Pediatr
Diabetes. 2010 Mar;11(2):142-7. 11(2): 142-7, Mar 2011.
93. Palladino AA, Stanley CA: Nesidioblastosis No Longer! It's All About Genetics. J Clin
Endocrinol Metab 96(3): 617-9, Mar 2011.
94. Stanley CA: Two genetic forms of hyperinsulinemic hypoglycemia caused by
dysregulation of glutamate dehydrogenase. Neurochem Int 59(4): 465-72, Sep
2011.
95. Stanley CA: Two genetic forms of hyperinsulinemic hypoglycemia caused by
dysregulation of glutamate dehydrogenase. Neurochem Int 59(4): 465-72, Sept
2011.
Page 32
96. Bennett MJ, Stanley CA: Plasma Membrane Carnitine Transporter Defect. The Online
Metabolic & Nolecular Sases of Inherited Disease. Valle D, Vogelstein B, Kinzler
KW, Antonarakis SE, Ballagio A, Gibson KM, Mitchell G (eds.).
McGraw-Hill,(101.1), 2011.
97. De Leon DD, Stanley CA: Permanent Neonatal Diabetes Mellitus. GeneReview. Pagan
RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephen K (eds.).
GeneReviews [Internet] 2011.
98. DeLeon D, Stanley CA: Hypoglycemia. Pediatric Endocrinology: A Practical Clinical
Guide. Sally Radovick, MD and Margaret H. MacGillivray, MD (eds.). Springer,
2nd edition, 2011.
99. Hardy OT, Stanley CA: Hypoglycemia. Fetal and Neonatal Physiology: Expert Consult
- Online and Print, 2-Volume Set Richard A. Polin, William W. Fox, M.D.,
Steven H. Abman (eds.). Elsevier - Health Sciences Division Page: 568-575,
2011.
100. Stanley CA, Bennett MJ: Disorders of Mitochondrial Fatty Acid Beta-Oxidation.
Nelson Textbook of Pediatrics, 19th Edition. Robert M. Kliegman, Bonita F.
Stanton, Joseph W. St. Geme III, Nina F. Schor, Richard E. Behrman (eds.).
Elsevier Saunders, Page: 456-462, 2011.
101. De Leon DD, Stanley CA: Pathophysiology of Diffuse ATP-Sensitive Potassium
Channel Hyperinsulinism. Frontiers in Diabetes: Monogenic hyperinsulinemic
hypoglycemia disorders. Karger, 21, Feb 2012.
102. Kelly A, Palladino A, Stanley CA: Congenital Hyperinsulinism Due to Activating
Mutations of Glutamate Dehydrogenase: The Hyperinsulinism/Hyperammonemia
Syndrome. Frontiers in Diabetes: Monogenic hyperinsulinemic hypoglycemia
disorders. Karger, 21, Feb 2012.
103. Li C, Matschinsky FM, Stanley CA: Amino Acid-Stimulated Insulin Secretion: The
Role of the Glutamine-Glutamate-Alpha-Ketoglutarate Axis. Frontiers in Diabetes:
Monogenic hyperinsulinemic hypoglycemia disorders. Karger, 21, Feb 2012.
104. Sayed S, Matschinsky FM, Stanley CA: Hyperinsulinism Due to Activating
Mutations of Glucokinase. Frontiers in Diabetes: Monogenic hyperinsulinemic
hypoglycemia disorders. Karger, 21, Feb 2012.
105. Stanley CA, Matschinsky FM: Historical Perspective on the Genetic Forms. Frontiers
in Diabetes: Monogenic hyperinsulinemic hypoglycemia diosrders. Karger, 21,
Feb 2012.
Page 33
106. Li M, Li C, Allen A, Stanley CA, Smith TJ: The structure and allosteric regulation of
mammalian glutamate dehydrogenase. Arch Biochem Biophys 15(2): 69-80, Mar
2012.
107. Blomberg BA, Moghbel MC, Saboury B, Stanley CA, Alavi A.: The value of
radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal
congenital hyperinsulinism: systematic review and meta-analysis. Mol Imaging
Biol 15(1): 97-105, Feb 2013.
108. De Leon DD, Stanley CA: Determination of insulin for the diagnosis of
hyperinsulinemic hypoglycemia. Best Practice & Research Clinical Endocrinology
& Metabolism 27(6): 763-769, Dec 2013.
109. De Leon DD, Thornton PS, Stanley CA, Sperling MA: Hypoglycemia in Neonates
and Infants. Pediatric Endocrinology, 4th Edition. Mark A. Sperling (eds.).
Saunders, 2013.
110. Diva D. De LeonCharles A. Stanley: Hypoglycemia. Contempory Endocrinology.
Sally Radovick (eds.). Springer, 2013.
111. Kelly A, Stanley CA: Hyperinsulinism. Pediatric Endocrinology and Inborn Errors of
Metabolism, 2nd Edition. Sarafoglou K, Roth KS, Hoffmann GF (eds.). 2013.
112. Langdon DR, Stanley CA, Sperling MA.: Hypoglycemia in the Infant and Child.
Pediatric Endocrinology, 4th Edition. Mark A. Sperling (eds.). Saunders, 2013.
113. Stanley CA: Congenital Hyperinsulinism. Clinical Decision Support: Pediatrics.
Bonney, McMillan, Barrett, Jones (eds.). Decision Support in Medicine, LLC,
2013 Notes: online publication.
114. De Len DD, and Stanley CA: Permanent Neonatal Diabetes Mellitus. GeneReview.
Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K
(eds.). GeneReviews [Internet]. Updated, Jan 23 2014.
115. Bennett MJ, Stanley CA, Longo N: Plasma Membrane Carnitine Transporter Defect.
Online Metabolic & Molecular Basis of Inherited Disease. David Valle, MD,
Editor-in-Chief, Arthur L. Beaudet, MD,Bert Vogelstein, MD, Kenneth W.
Kinzler, Ph.D., Stylianos E. Antonarakis, MD, D.Sc., Andrea Ballabio, MD, K.
Michael Gibson, Ph.D., FACMG, Grant Mitchell, MD (eds.). McGraw Hill, March
2014.
116.
(b) (4)
Page 34
Books:
1. Charles A. Stanley and Diva D. De Leon (Eds): Monogenic Hyperinsulinemic
Hypoglycemia Disorders. Frontiers in Diabetes. Karger, 21, Feb 2012.
Alternative Media:
[none]
Patents:
Smith, Li, Stanley: Methods and Compositions for Modulating Glutamate Dehydrogenase. US
Patent Number 11/263,797, 2005.
DeLeon, Stoffers, Stanley: Methods and Compositions for Treating Hypoglycemic Disorders.
US Patent Number 12/522,274, 2009.

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UNIVERSITY OF PENNSYLVANIA - PERELMAN SCHOOL OF MEDICINE

Children's Hospital of Philadelphia

Harvard University (Biochemical Sciences)

Postgraduate Training and Fellowship Appointments:

Instructor in Pediatrics, Department of Pediatrics, University of

Hospital and/or Administrative Appointments:

Charles A. Stanley, M.D.

Chief, Division of Endocrinology/Diabetes, Children's Hospital

American Board of Pediatrics (19045)

Awards, Honors and Membership in Honorary Societies:

American Diabetes Association (Philadelphia Affiliate, President of Professional

Congenital Hyperinsulinism International (Scientific Advisory Board)

NICHD Site Visitor, Cleveland, Ohio

Charles A. Stanley, M.D.

Academic and Institutional Committees:

Charles A. Stanley, M.D.

Organizing Roles in Scientific Meetings:

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

167. Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K,

Research Publications, peer-reviewed reviews:

Charles A. Stanley, M.D.

2. Hughes N, Snider K, Carrie Coleman-Campbell C, Sayed S, Shen G, Boyajian L,

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

20. Kalish JM, Boodhansingh K, Conlin LK, Bhatti T, Ganguly A, Bartolomei M,

Editorials, Reviews, Chapters, including participation in committee reports (print or other

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

33. Stanley CA: Carnitine/acylcarnitine translocase deficiency. Neurobase. Arbor

Charles A. Stanley, M.D.

47. Stanley CA: The hyperinsulinism-hyperammonemia syndrome: gain-of-function

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

Charles A. Stanley, M.D.

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