Results 21 to 30 of about 2,108 (140)
Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome
Travmatologiâ i Ortopediâ Rossii, 2013 Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism.
N. A. Kovalenko-Klychkova +2 more
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Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
Case Reports in Pediatrics, 2014 Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and ...
Mehmet Demirdöven +4 more
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Journal of Lipid Research, 1995 We have identified the third unknown sterol in the plasma and tissues of Smith-Lemli-Opitz homozygotes as 19-nor-5,7,9(10)-cholestatrien-3 beta-ol. The structure was established from capillary gas-liquid chromatography retention index and characteristic ...
A K Batta, G Salen, G S Tint, S Shefer
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Pediatric Neurology Briefs, 1998 Two sibs, a male aged 3 years and female aged 7 months, with a variant of Smith-Lemli-Opitz (SLO) syndrome and atypical sterol metabolism are reported from the Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.
J Gordon Millichap
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Corpus Callosum in Smith-Lemli-Opitz Syndrome
Pediatric Neurology Briefs, 2013 Investigators at the Kennedy Krieger Institute and Johns Hopkins University, Baltimore; and the National Institutes of Health, Bethesda, MD, studied the relation between the size of the corpus callosum (CC), level of serum 7-dehydrocholesterol (7DHC ...
J Gordon Millichap
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Journal of Lipid Research, 1995 Cholesta-5,8-dien-3 beta-ol (8-dehydrocholesterol) and cholesta-5,7-dien-3 beta-ol (7-dehydrocholesterol) were isolated from the fecal neutral sterol fraction from homozygotes with Smith-Lemli-Opitz syndrome.
A K Batta +4 more
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microRNAs: A connection between cholesterol metabolism and neurodegeneration
Neurobiology of Disease, 2014 Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann–Pick type C disease, Smith–Lemli–Opitz syndrome, Hungtington's disease and Parkinson's disease ...
Leigh Goedeke +1 more
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Journal of Lipid Research, 1998 The mechanism for the catalytic reduction of the double bond at C-7,8 in 7-dehydrocholesterol by 3β-hydroxysterol Δ7-reductase was investigated by testing structurally related sterols as substrates and potential inhibitors. The hepatic smooth endoplasmic
S. Shefer +7 more
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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
Journal of Lipid Research, 1996 The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7-dehydrocholesterol-delta7-reductase, the enzyme that catalyzes the last reaction in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol.
G Salen +7 more
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Journal of Lipid Research, 1999 7-Dehydrocholesterol accumulates in fetuses affected by the Smith-Lemli-Opitz syndrome as a result of a deficit in the ultimate step of cholesterol synthesis catalyzed by Δ7 reductase.
Wassila Gaoua +3 more
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