title: Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome.
authors.affiliation: Department of Medicine, UMDNJ-NJ Medical School, Newark, USA.
authors.forename: A K
authors.initials: AK
authors.lastname: Batta
authors.forename: G
authors.initials: G
authors.lastname: Salen
mesh_terms: D015415:Biomarkers / Q000032:analysis; D002648:Child; D002784:Cholesterol / Q000096:biosynthesis*; D005260:Female; D006801:Humans; D010088:Oxidoreductases / Q000378:metabolism*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011379:Prognosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis* / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase