Hsu BY - Search Results

1

Sudden neonatal death in carnitine transporter deficiency.

Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ. Rinaldo P, et al. Among authors: hsu by. J Pediatr. 1997 Aug;131(2):304-5. doi: 10.1016/s0022-3476(97)70171-9. J Pediatr. 1997. PMID: 9290621 Free article.

2

First prenatal diagnosis of the carnitine transporter defect.

Christodoulou J, Teo SH, Hammond J, Sim KG, Hsu BY, Stanley CA, Watson B, Lau KC, Wilcken B. Christodoulou J, et al. Among authors: hsu by. Am J Med Genet. 1996 Dec 2;66(1):21-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<21::AID-AJMG5>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8957505

3

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

4

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

5

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

6

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.

7

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

8

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.

9

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

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. Bouchard L, et al. Among authors: hsu by. Pediatr Res. 2001 Mar;49(3):326-31. doi: 10.1203/00006450-200103000-00005. Pediatr Res. 2001. PMID: 11228257

10

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

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