Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome.
Batta
A K
AK
Department of Medicine, UMDNJ-NJ Medical School, Newark, USA.
Salen
G
G
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*
D015415:Biomarkers; D002784:Cholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase