Results 31 to 40 of about 2,108 (140)
Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry
Brazilian Journal of Medical and Biological Research, 2003 Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development ...
F.B. Scalco +4 more
doaj +1 more source
Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome
Molecular Genetics and Metabolism Reports, 2014 Smith–Lemli–Opitz Syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol.
Shaohua Chang +7 more
doaj +1 more source
Journal of Lipid Research, 2001 Infants with the cholesterol synthesis defect Smith-Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain.
Ingemar Björkhem +7 more
doaj +1 more source
Ankyloglossia with cleft lip: A rare case report
Journal of Indian Society of Periodontology, 2015 Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment ...
Kritika Jangid +4 more
doaj +1 more source
Malformation syndromes caused by disorders of cholesterol synthesis
Journal of Lipid Research, 2011 Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions.
Forbes D. Porter, Gail E. Herman
doaj +1 more source
Airway Management of Patient with Smith-Lemli-Opitz Syndrome
İstanbul Medical Journal, 2015 Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive syndrome presenting with multiple congenital anomalies and mental retardation associated with low plasma cholesterol levels.
Ahmet Küçük +5 more
doaj +1 more source
Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment
Cumhuriyet Dental Journal, 2019 Smith-Lemli-Opitz syndrome is a rare syndrome with multiple congenital anomalies after birth and characteristic with mental retardation. Hereditary cholesterol diseases are an autosomal recessive form of metabolic disturbances.
Nisa Gül Amuk, Taner Öztürk
doaj +1 more source
Clinical diagnosis of the Smith-Lemli-Opitz type I syndrome. Case Report
Acta Médica del Centro, 2018 With a low incidence, the relatively recent finding that the Smith-Lemli-Opitz syndrome is caused by a disorder of cholesterol metabolism, increases its interest as an expression of a new path for better knowledge of monogenic syndromes with multiple ...
Noel Taboada Lugo +2 more
doaj
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
Frontiers in Neuroscience, 2021 Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman +3 more
doaj +1 more source
Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome
Journal of Lipid Research, 2000 The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Δ7-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors 7 ...
Petr E. Jira +7 more
doaj +1 more source