B. Y. Hsu

发表

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations.

C. Stanley, T. Smith, Jie Fang, 2002, The Biochemical journal.

Sudden neonatal death in carnitine transporter deficiency.

C. Stanley, B. Y. Hsu, P. Rinaldo, 1997, The Journal of pediatrics.

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

C. Stanley, S. Cederbaum, A. Ganguly, 2002, Molecular genetics and metabolism.

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

C. Stanley, T. Smith, A. Ganguly, 2001, The Journal of clinical endocrinology and metabolism.

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.

C. Stanley, B. Glaser, B. Y. Hsu, 2000, Diabetes.

Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases.

C. Stanley, B. Y. Hsu, B. Corkey, 1997, The American journal of physiology.

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

C. Stanley, B. Y. Hsu, C. Greenberg, 2001, The Journal of pediatrics.

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients

C. Stanley, Shupei Wang, M. Robert, 2001, Pediatric Research.

Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

C. Stanley, B. Y. Hsu, J. Pitt, 1997, The New England journal of medicine.

Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.

C. Stanley, A. Ganguly, B. Y. Hsu, 2001, Molecular genetics and metabolism.

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

C. Stanley, B. Y. Hsu, M. Poncz, 1998, The New England journal of medicine.

Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice*♦

Thomas J Petty, C. Stanley, I. Nissim, 2006, Journal of Biological Chemistry.

First prenatal diagnosis of the carnitine transporter defect.

C. Stanley, J. Christodoulou, B. Y. Hsu, 1996, American journal of medical genetics.

“Leucine Sensitive Hypoglycemia” Caused by a Dominantly-inherited Mutation of Glutamate Dehydrogenase • 442

C. Stanley, B. Glaser, Jie Fang, 1998, Pediatric Research.

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

C. Stanley, T. Smith, A. Ganguly, 2001, The Journal of clinical endocrinology and metabolism.