genetic disorders of carbohydrate and fatty acid metabolism, insulin secretion
hypoglycemia, glycogenoses, fatty acid oxidation disorders, diabetes mellitus
Selected Publications
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.
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.
Huang T, Kelly A, Becker SA, Cohen MS, Stanley CA: Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism. Arch Dis Child Fetal Neonatal Ed.
Feb 2013 Notes: [Epub ahead of print]
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.
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.
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.
Diva D. De Leon
Charles A. Stanley: Hypoglycemia. Contempory Endocrinology. Sally Radovick (eds.). Springer, 2013 Notes: accepted for publication.
Andrea Kelly
Charles A. Stanley: Hyperinsulinism. Pediatric Endocrinology and Inborn Errors of Metabolism, 2nd Edition. Sarafoglou K
Roth KS
Hoffmann GF (eds.). McGraw Hill, 2013 Notes: accepted for publication.
David R. Langdon
Charles A. Stanley
Mark A. Sperling: Hypoglycemia in the Infant and Child. Pediatric Endocrinology, 4th Edition. Mark A. Sperling (eds.). Saunders, 2013 Notes: accepted for publication.
Boodhansingh KE, Cresio A, De Leon DD, Stanley CA: A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
JPEM 2013 Notes: Accepted for Publication.
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Last updated: 07/16/2013
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