Stanley CA - Search Results

1

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. Among authors: stanley ca. Mol Genet Metab. 2001 Sep-Oct;74(1-2):248-55. doi: 10.1006/mgme.2001.3235. Mol Genet Metab. 2001. PMID: 11592821

2

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. Mol Genet Metab. 2002 Nov;77(3):195-201. doi: 10.1016/s1096-7192(02)00169-5. Mol Genet Metab. 2002. PMID: 12409266

3

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: stanley ca. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414. J Clin Endocrinol Metab. 2001. PMID: 11297618

4

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN, et al. Stanley CA, et al. Ann Neurol. 1991 Nov;30(5):709-16. doi: 10.1002/ana.410300512. Ann Neurol. 1991. PMID: 1763895 Review.

5

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

Chalmers RA, Stanley CA, English N, Wigglesworth JS. Chalmers RA, et al. Among authors: stanley ca. J Pediatr. 1997 Aug;131(2):220-5. doi: 10.1016/s0022-3476(97)70157-4. J Pediatr. 1997. PMID: 9290607

6

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.

Stanley CA, Sunaryo F, Hale DE, Bonnefont JP, Demaugre F, Saudubray JM. Stanley CA, et al. J Inherit Metab Dis. 1992;15(5):785-9. doi: 10.1007/BF01800021. J Inherit Metab Dis. 1992. PMID: 1434517

7

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: stanley ca. 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

8

The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2.

Iacobazzi V, Naglieri MA, Stanley CA, Wanders RJ, Palmieri F. Iacobazzi V, et al. Among authors: stanley ca. Biochem Biophys Res Commun. 1998 Nov 27;252(3):770-4. doi: 10.1006/bbrc.1998.9738. Biochem Biophys Res Commun. 1998. PMID: 9837782

9

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA. Henwood MJ, et al. Among authors: stanley ca. J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. doi: 10.1210/jc.2004-1604. Epub 2004 Nov 23. J Clin Endocrinol Metab. 2005. PMID: 15562009

10

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.

Ferrara CT, Boodhansingh KE, Paradies E, Fiermonte G, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De Leon DD, Palmieri F, Stanley CA. Ferrara CT, et al. Among authors: stanley ca. J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949. doi: 10.1210/jc.2016-3164. J Clin Endocrinol Metab. 2017. PMID: 27967291 Free PMC article.

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