Clinical and biochemical screening for Smith-Lemli-Opitz syndrome

Acta Paediatrica, International Journal of Paediatrics

Volumn 85, Issue 8, 1996, Pages 937-942

  Guzzetta, V ^a   De Fabiani, E ^b   Galli, G ^b   Colombo, C ^c   Corso, G ^a   Lecora, M ^a   Parenti, G ^a   Strisciuglio, P ^d   Andria, G ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

^d UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

Cholesterol biosynthesis; Smith Lemli Opitz syndrome; Ultraviolet spectrophotometry

Indexed keywords

7 DEHYDROCHOLESTEROL; BILE ACID; CHOLESTEROL; DELTA7 STEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; ENZYME DEFECT; FEMALE; GAS CHROMATOGRAPHY; HUMAN; INFANT; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; SCREENING; SMITH LEMLI OPITZ SYNDROME; ULTRAVIOLET SPECTROPHOTOMETRY;

EID: 0029744754     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1996.tb14190.x     Document Type: Article

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