Results 1 to 10 of about 7,325 (129)

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.

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, G S Tint, S Shefer, D Abuelo, G Salen   +4 more
doaj   +3 more sources

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes [PDF]

Orphanet Journal of Rare Diseases
Background Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic pathogenic variants in DHCR7, which encodes the enzyme 7-dehydrocholesterol reductase (DHCR7).
Edwin Ferren, Paul R. Hillman, Amy Kritzer, Joseph Ray, Alvaro Serrano, Hope Northrup, Paige Roberts, Rana Dutta, Tiziano Pramparo, Pamela Vig, Robert D. Steiner   +10 more
doaj   +2 more sources

Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith–Lemli–Opitz Syndrome (SLOS) Models [PDF]

Biomolecules
Smith–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, Allison C. Anderson, Marta Balog, Keri A. Tallman, Ned A. Porter, Karoly Mirnics   +5 more
doaj   +2 more sources

Maternal cariprazine exposure effects on lactating offspring sterol biosynthesis [PDF]

Translational Psychiatry
In the developing brain cholesterol is synthesized by both neurons and glia, and sterol biosynthesis peaks in early postnatal life. Genetic disruptions of sterol biosynthesis genes lead to complex intellectual and developmental disabilities. In addition,
Allison C. Anderson, Kanika Sharma, Željka Korade, Károly Mirnics   +3 more
doaj   +2 more sources

Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS) [PDF]

Journal of Rare Diseases
Purpose This study investigates receptive and expressive language abilities in individuals with Smith-Lemli-Opitz syndrome (SLOS) and examines how these are associated with intellectual functioning, sex, autism spectrum disorder (ASD) diagnosis, and ...
Stephanie M. Morris, Elaine Tierney
doaj   +2 more sources

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification [PDF]

, 2020
Rare multiple congenital malformations/developmental disorders are challenging in clinical diagnosis. The introductionof next-generation sequencing (NGS) has revolutionized this diagnostic by offering multigene panels or whole-exomesequencing.
Hosiawa, Violetta, Jezela-Stanek, Aleksandra, Kowalska, Ewa M., Krajewska-Walasek, Malgorzata, Siejka, Anna   +4 more
core   +5 more sources

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata [PDF]

, 2022
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal ...
12521, 12522, 12523, 12524, 12525, 12526, 12527, 12528, 12529, Fukami, Maki, Fukuda, Tokiko, Hiraide, Takuya, Honda, Akira, Kato, Fumiko, Masunaga, Yohei, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo   +17 more
core   +1 more source

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients

Biomolecules, 2021
Smith-Lemli-Opitz syndrome (SLOS) is a severe monogenic disorder resulting in low cholesterol and high 7-dehydrocholesterol (7-DHC) levels. 7-DHC-derived oxysterols likely contribute to disease pathophysiology, and thus antioxidant treatment might be ...
Katalin Koczok, László Horváth, Zeljka Korade, Zoltán András Mezei, Gabriella P. Szabó, Ned A. Porter, Eszter Kovács, Károly Mirnics, István Balogh   +8 more
doaj   +1 more source

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions [PDF]

, 2021
BackgroundOne objective of the Belgian Rare Diseases plan is to improve patients' management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new financing
Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases, [missing], Boemer, François, Bonroy, Carolien, Bossuyt, Xavier, Coucke, Wim, Devreese, Katrien, Eyskens, François, Gothot, André, Gulbis, Béatrice, Laeremans, Hilde, Martens, Geert A., Minon, Jean-Marc, Roosens, Laurence, Smet, Julie, Stepman, Hedwig, Van Hoof, Viviane O., Vandevelde, Nathalie M., Vermeersch, Pieter, Vernelen, Kris, Vincent, Marie-Françoise, Weets, Ilse   +20 more
core   +2 more sources

Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7α-hydroxylase and 27-hydroxylase activities in rat liver

Journal of Lipid Research, 1999
The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda, Gerald Salen, Sarah Shefer, Ashok K. Batta, Megumi Honda, Guorong Xu, G. Stephen Tint, Yasushi Matsuzaki, Junichi Shoda, Naomi Tanaka   +9 more
doaj   +1 more source