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[Smith-Lemli-Opitz syndrome: abnormal cholesterol biosynthesis]. 1997

M de la Torre Verdú, and M Vázquez López, and L Carrasco Marina, and M L Girós, and S Quijano Roy, and A Arregui Sierra
Servicio de Pediatría, Hospital Severo Ochoa, Madrid.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D002784 Cholesterol The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. Epicholesterol
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019082 Smith-Lemli-Opitz Syndrome An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. 7-Dehydrocholesterol Reductase Deficiency,Hyperotosis Corticalis Generalisata Familiaris,Lethal Acrodysgenital Syndrome,Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung,RSH Syndrome,RSH-SLO Syndrome,Rutledge Friedman Harrod Syndrome,Rutledge Lethal Multiple Congenital Anomaly Syndrome,SLO Syndrome,Smith Lemli Opitz syndrome, type 1,Smith-Lemli-Opitz Syndrome, Type 1,Smith-Lemli-Opitz Syndrome, Type 2,Smith-Lemli-Opitz Syndrome, Type I,Smith-Lemli-Opitz Syndrome, Type II,7-Dehydrocholesterol Reductase Deficiencies,Acrodysgenital Syndrome, Lethal,Acrodysgenital Syndromes, Lethal,Deficiencies, 7-Dehydrocholesterol Reductase,Deficiency, 7-Dehydrocholesterol Reductase,Lethal Acrodysgenital Syndromes,RSH SLO Syndrome,RSH Syndromes,RSH-SLO Syndromes,Reductase Deficiencies, 7-Dehydrocholesterol,Reductase Deficiency, 7-Dehydrocholesterol,SLO Syndromes,Smith Lemli Opitz Syndrome,Smith Lemli Opitz Syndrome, Type 2,Smith Lemli Opitz Syndrome, Type I,Smith Lemli Opitz Syndrome, Type II,Syndrome, Lethal Acrodysgenital,Syndrome, RSH,Syndrome, SLO,Syndromes, RSH,Syndromes, SLO

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