Results 161 to 170 of about 4,480 (201)
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2014
Smith–Lemli–Opitz syndrome (SLOS) is a multiple congenital malformation and intellectual disability syndrome with a broad clinical spectrum and phenotypes ranging from mild to severe. SLOS occurs in approximately 1 in 20,000–30,000 births in populations of northern and central European background.
Stefan Mundlos, Denise Horn
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Smith–Lemli–Opitz syndrome (SLOS) is a multiple congenital malformation and intellectual disability syndrome with a broad clinical spectrum and phenotypes ranging from mild to severe. SLOS occurs in approximately 1 in 20,000–30,000 births in populations of northern and central European background.
Stefan Mundlos, Denise Horn
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2019
This chapter reviews the incidence, etiology, and biochemical basis of Smith–Lemli–Opitz syndrome, a metabolic disorder of cholesterol metabolism, characterized by multiple anomalies and dysmorphic features. Prenatal findings include a very low maternal serum estriol.
Robin D. Clark, Cynthia J. Curry
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This chapter reviews the incidence, etiology, and biochemical basis of Smith–Lemli–Opitz syndrome, a metabolic disorder of cholesterol metabolism, characterized by multiple anomalies and dysmorphic features. Prenatal findings include a very low maternal serum estriol.
Robin D. Clark, Cynthia J. Curry
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Smith–Lemli–Opitz syndrome among Arabs
Clinical Genetics, 2011Al‐Owain M, Imtiaz F, Shuaib T, Edrees A, Al‐Amoudi M, Sakati N, Al‐Hassnan Z, Bamashmous H, Rahbeeni Z, Al‐Ameer S, Faqeih E, Meyer B, Al‐Hashem A, Garout W, Al‐Odaib A, Rashed M, Al‐Aama JY. Smith–Lemli–Opitz syndrome among Arabs.Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive disorder of variable presentation caused by the deficiency of ...
M, Al-Owain +16 more
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Brothers With Smith-Lemli-Opitz Syndrome
Journal of Pediatric Health Care, 2015Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations,
Maria N. Kelly +4 more
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THE SMITH–LEMLI–OPITZ SYNDROME
Medical Journal of Australia, 1971C G, Judge +2 more
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1999
Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase.
N, Haghiri +5 more
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Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase.
N, Haghiri +5 more
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2017
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small
openaire +1 more source
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small
openaire +1 more source