Results 11 to 20 of about 4,480 (201)
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
doaj +2 more sources
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
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
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 [PDF]
Nihon rinsho. Japanese journal of clinical medicine, 2007 Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital anomaly/mental retardation pattern caused by an inborn error of cholesterol metabolism ...
Arroyo Carrera, I
core +2 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
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
Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome. [PDF]
Am J Med Genet AABSTRACT Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7‐dehydrocholesterol reductase. This results in elevated levels of cholesterol precursors and typically low cholesterol levels, leading to a range of physical and cognitive challenges ...
Selvaraman A +4 more
europepmc +2 more sources
Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]
, 2013 Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed +58 more
core +14 more sources