Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient-Reference-Cited by-同舟云学术

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

Published:1994-05-01 Issue:4 Volume:50 Page:347-352
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Irons Mira,Elias Ellen Roy,Tint G. S.,Salen Gerald,Frieden Roger,Buie Timothy M.,Ampola Mary

Publisher

Wiley

Subject

Genetics(clinical)

Reference12 articles.

1. Cholesterol Prevents the Teratogenic Action of AY 9944: Importance of the Timing of Cholesterol Supplementation to Rats

2. Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

3. Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

4. (1990): “Syndromes of the Head and Neck”. New York: Oxford University Press, pp 890-895, 3rd ed.

5. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

Cited by 92 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Auditory phenotype of Smith–Lemli–Opitz syndrome;American Journal of Medical Genetics Part A;2021-02-02

2. Desmosterolosis presenting with multiple congenital anomalies;European Journal of Medical Genetics;2018-03

3. Smith-Lemli-Opitz Syndrome;Obstetric Imaging: Fetal Diagnosis and Care;2018

4. A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome;Genetics in Medicine;2017-03

5. A koleszterin-bioszintézis veleszületett zavara: a Smith–Lemli–Opitz-szindróma;Orvosi Hetilap;2015-10