Stanley CA - Search Results

1

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

2

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

3

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.

4

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

5

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP. Stanley CA, et al. N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104. N Engl J Med. 1992. PMID: 1598097 Free article. No abstract available.

6

Carnitine disorders.

Stanley CA. Stanley CA. Adv Pediatr. 1995;42:209-42. Adv Pediatr. 1995. PMID: 8540429 Review. No abstract available.

7

Mutational analysis of allosteric activation and inhibition of glucokinase.

Zelent B, Odili S, Buettger C, Zelent DK, Chen P, Fenner D, Bass J, Stanley C, Laberge M, Vanderkooi JM, Sarabu R, Grimsby J, Matschinsky FM. Zelent B, et al. Biochem J. 2011 Dec 1;440(2):203-15. doi: 10.1042/BJ20110440. Biochem J. 2011. PMID: 21831042 Free PMC article.

8

Carnitine deficiency disorders in children.

Stanley CA. Stanley CA. Ann N Y Acad Sci. 2004 Nov;1033:42-51. doi: 10.1196/annals.1320.004. Ann N Y Acad Sci. 2004. PMID: 15591002 Review.

9

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

10

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.

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