Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome-Reference-Cited by-同舟云学术

Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome

Published:1996-11 Issue:11 Volume:37 Page:2433-2438
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Honda M,Tint G S,Honda A,Batta A K,Chen T S,Shefer S,Salen G

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference27 articles.

1. A newly recognized syndrome of multiple congenital anomalies;Smith;J. Pediatr.,1964

2. Defective conversion of 7-dehydro-cholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes;Honda;J. Lipid Res.,1995

3. Markedly inhibited 7-dehydrocholesterol A7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes;Shefer;J. Clin. Invest.,1995

4. Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents;Chasalow;Steroids.,1985

5. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality;Curry;Am. J. Med. Genet.,1987

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