Results 1 to 10 of about 2,108 (140)
Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays [PDF]
Clinical Case Reports, 2023 Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly.
Simone Coupe +6 more
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Statins for Smith-Lemli-Opitz syndrome. [PDF]
Cochrane Database Syst Rev, 2022 Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol biosynthesis. Affected individuals show cholesterol deficiency and accumulation of various precursor molecules, mainly 7-dehydrocholesterol and 8-dehydrocholesterol.
Ballout RA +4 more
europepmc +3 more sources
Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development [PDF]
BiomedicinesBackground/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk +3 more
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Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience [PDF]
Balkan Journal of Medical Genetics, 2021 The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (
Begic N, Begic Z, Begic E
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Statins for Smith-Lemli-Opitz syndrome. [PDF]
Cochrane Database Syst Rev, 2020 This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: 1. To evaluate the efficacy of statin therapy in reducing the frequency or severity of the neurobehavioral abnormalities seen in people with SLOS (e.g. aggression, anxiety, irritability, self-mutilation, autistic behaviors, sleep disturbances, etc.) (Wassif 2017). 2.
Ballout RA +5 more
europepmc +4 more sources
Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis [PDF]
Frontiers in Molecular Biosciences, 2023 The biosynthesis of cholesterol, an essential component of higher eukaryotic membranes, was worked out by Konrad Bloch (and Feodor Lynen) in the 1960s and they received the Nobel Prize around that time in recognition of their pioneering contributions. An
Amitabha Chattopadhyay +3 more
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Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report [PDF]
Journal of Medical Case Reports, 2018 Background Smith–Lemli–Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay.
Chamara Jayamanne +4 more
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Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith–Lemli–Opitz Syndrome (SLOS) Models [PDF]
BiomoleculesSmith–Lemli–Opitz syndrome (SLOS) is a developmental disability arising from bi-allelic pathogenic variants in the 7-dehydrocholestrol reductase (DHCR7) enzyme and the accumulation of 7-dehydrocholesterol (7-DHC).
Zeljka Korade +5 more
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7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome [PDF]
eLife, 2022 Defective 3β-hydroxysterol-Δ7 -reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in a deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC).
Hideaki Tomita +5 more
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Pediatric Neurology Briefs, 1996 Clinical features as specific indicators in the diagnosis of Smith-Lemli-Opitz syndrome (SLOS) and the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening test were examined by an Italian SLOS Collaborative Group of ...
J Gordon Millichap
doaj +8 more sources