Results 11 to 20 of about 2,108 (140)
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome [PDF]
Journal of Lipid Research, 2021 Smith-Lemli-Opitz Syndrome (SLOS) is a developmental disorder (OMIM #270400) caused by autosomal recessive mutations in the Dhcr7 gene, which encodes the enzyme 3β-hydroxysterol-Δ7 reductase.
Babunageswararao Kanuri +7 more
doaj +2 more sources
Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly [PDF]
JIMD Reports, 2020 Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder caused by variants in the DHCR7 gene. In cholesterol biosynthesis, 7‐dehydrocholesterol (7‐DHC) is converted to cholesterol by the enzyme 7‐DHC reductase, which is encoded by ...
Suzanna E. L. Temple +2 more
doaj +2 more sources
Molecules, 2018 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily ...
Steven J. Fliesler, Libin Xu
doaj +3 more sources
Sterol dysregulation in Smith–Lemli–Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk [PDF]
Disease Models & Mechanisms, 2022 Bethany A. Freel +4 more
doaj +2 more sources
Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients [PDF]
Biomolecules, 2021 Ned Porter +2 more
exaly +2 more sources
Smith–Lemli–Opitz syndrome [PDF]
Expert Reviews in Molecular Medicine, 2011 Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemical and genetic basis for SLOS, specifically understanding SLOS as a cholesterol deficiency syndrome caused by ...
Andrea E, DeBarber +4 more
openaire +3 more sources
The Smith-Lemli-Opitz syndrome [PDF]
Journal of Medical Genetics, 2000 The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients.
Kelley, R.I., Hennekam, R.C.M.
openaire +4 more sources
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT [PDF]
Romanian Journal of Pediatrics, 2015 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment.
Sorin Ioan Iurian +6 more
doaj +1 more source
A novel syndrome associated with prenatal fentanyl exposure
Genetics in Medicine Open, 2023 A novel syndrome was suspected in individuals sharing short stature, microcephaly, distinctive facial features, and congenital anomalies. We enrolled 6 patients in an institutional review board approved study and evaluated medical history, findings ...
Erin Wadman +13 more
doaj +1 more source
Indian Journal of Human Genetics, 2012 Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase.
Gedam, Rachana +3 more
openaire +4 more sources