Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of applied genetics"
DOI: 10.1007/s13353-021-00632-5
Abstract: Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders. Its primary cause lies in the defect in cholesterol biosynthesis-7-dehydrocholesterol reductase (DHCR7)-caused by pathogenic variants in the homonymous gene. Anthropometric anomalies, especially… read more here.
Keywords: lemli opitz; smith lemli; anthropometric characteristics; characteristics polish ... See more keywords
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2021.05.004
Abstract: Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting… read more here.
Keywords: lemli opitz; sitosterolemia; cholesterol; smith lemli ... See more keywords
Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis.
Sign Up to like & getrecommendations! Published in 2021 at "Talanta"
DOI: 10.1016/j.talanta.2021.122260
Abstract: 7-Dehydrocholesterol is an essential biomarker of Smith-Lemli-Opitz syndrome, a congenital autosomal recessive disorder. This study shows for the first time that electrochemical oxidation of 7-dehydrocholesterol can be used for its voltammetric determination. Two classes of… read more here.
Keywords: lemli opitz; dehydrocholesterol; smith lemli; opitz syndrome ... See more keywords
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.15
Abstract: Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe… read more here.
Keywords: lemli opitz; opitz syndrome; sex development; smith lemli ... See more keywords
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2017-0501
Abstract: Abstract Background: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical… read more here.
Keywords: lemli opitz; biochemical correlates; opitz syndrome; clinical biochemical ... See more keywords
Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2023.1120373
Abstract: 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… read more here.
Keywords: lemli opitz; hypothesis; smith lemli; bloch ... See more keywords