Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference6 articles.
1. A newly recognised syndrome of multiple congenital abnormalities;Smith;J Pediatr,1964
2. Smith-Lemli-Opitz syndrome: neuropathological and opththalmological observatins;Fierro;Dev Med Child Neurol,1977
3. Smith-Lemli-Opitz syndromes;Gorlin,1990
4. Smith-Lemli-Opilz syndrome;Pober,1990
5. Occurrence of isomeric dehydrocholesterols in human plasma;Aexlson;J Lipid Res,1991
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1. Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study;Molecular Genetics and Metabolism Reports;2024-03
2. Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Boy with a Strong Family History of Smith–Lemli–Opitz's Syndrome;Journal of Pediatric Neurology;2024-01-16
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4. Cholesterol regulates insulin-induced mTORC1 signaling;Journal of Cell Science;2023-11-15
5. MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome;2023-10-02
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