Hsu BY - Search Results

1

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

MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA; Hyperinsulinism/hyperammonemia Contributing Investigators. MacMullen C, et al. Among authors: hsu by. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414. J Clin Endocrinol Metab. 2001. PMID: 11297618

2

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

Fang J, Hsu BY, MacMullen CM, Poncz M, Smith TJ, Stanley CA. Fang J, et al. Among authors: hsu by. Biochem J. 2002 Apr 1;363(Pt 1):81-7. doi: 10.1042/0264-6021:3630081. Biochem J. 2002. PMID: 11903050 Free PMC article.

3

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

Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M. Stanley CA, et al. Among authors: hsu by. N Engl J Med. 1998 May 7;338(19):1352-7. doi: 10.1056/NEJM199805073381904. N Engl J Med. 1998. PMID: 9571255 Free article.

4

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.

Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B, Poncz M. Stanley CA, et al. Among authors: hsu by. Diabetes. 2000 Apr;49(4):667-73. doi: 10.2337/diabetes.49.4.667. Diabetes. 2000. PMID: 10871207

5

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

Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA. Hsu BY, et al. J Pediatr. 2001 Mar;138(3):383-9. doi: 10.1067/mpd.2001.111818. J Pediatr. 2001. PMID: 11241047

6

Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice.

Li C, Matter A, Kelly A, Petty TJ, Najafi H, MacMullen C, Daikhin Y, Nissim I, Lazarow A, Kwagh J, Collins HW, Hsu BY, Nissim I, Yudkoff M, Matschinsky FM, Stanley CA. Li C, et al. Among authors: hsu by. J Biol Chem. 2006 Jun 2;281(22):15064-72. doi: 10.1074/jbc.M600994200. Epub 2006 Mar 30. J Biol Chem. 2006. PMID: 16574664 Free article.

7

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

Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F, Ganguly A, Stanley CA. Hsu BY, et al. Mol Genet Metab. 2001 Sep-Oct;74(1-2):248-55. doi: 10.1006/mgme.2001.3235. Mol Genet Metab. 2001. PMID: 11592821

8

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

Lieu YK, Hsu BY, Price WA, Corkey BE, Stanley CA. Lieu YK, et al. Among authors: hsu by. Am J Physiol. 1997 Mar;272(3 Pt 1):E359-66. doi: 10.1152/ajpendo.1997.272.3.E359. Am J Physiol. 1997. PMID: 9124539

9

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

Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. Cederbaum SD, et al. Among authors: hsu by. Mol Genet Metab. 2002 Nov;77(3):195-201. doi: 10.1016/s1096-7192(02)00169-5. Mol Genet Metab. 2002. PMID: 12409266

10

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

Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA. Thompson GN, et al. Among authors: hsu by. N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704. N Engl J Med. 1997. PMID: 9337379 Free article. No abstract available.

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