ABNORMAL CHOLESTEROL-METABOLISM IN THE SMITH-LEMLI-OPITZ SYNDROME - REPORT OF CLINICAL AND BIOCHEMICAL FINDINGS IN 4 PATIENTS AND TREATMENT IN ONE PATIENT

被引：85

作者：

IRONS, M

ELIAS, ER

TINT, GS

SALEN, G

FRIEDEN, R

BUIE, TM

AMPOLA, M

机构：

[1] VET AFFAIRS MED CTR, DEPT MED, E ORANGE, NJ USA

[2] UNIV MED & DENT NEW JERSEY, SCH MED, DEPT MED, NEWARK, NJ 07103 USA

[3] NEWTON WELLESLEY HOSP, NEWTON, MA USA

[4] ELLIOT HOSP, MANCHESTER, NH USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 04期

关键词：

SMITH-LEMLI-OPITZ SYNDROME; CHOLESTEROL; 7-DEHYDROCHOLESTEROL; BILE ACIDS; INBORN ERROR OF METABOLISM; MULTIPLE CONGENITAL ANOMALIES SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320500409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well. (C) 1994 Wiley-Liss, Inc.

引用

页码：347 / 352

页数：6

共 12 条

[1] CHOLESTEROL PREVENTS THE TERATOGENIC ACTION OF AY-9944 - IMPORTANCE OF THE TIMING OF CHOLESTEROL SUPPLEMENTATION TO RATS [J].