Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 311-314

  Irons, Mira ^a   Elias, Ellen R ^a   Abuelo, Diane ^b   Bull, Marilyn J ^c   Greene, Carol L ^d   Johnson, Virginia P ^e   Keppen, Laura ^e   Schanen, Carolyn ^e   Stephen Tint, G ^f   Salen, Gerald ^g  

^a TUFTS MEDICAL CENTER   (United States)

^b RHODE ISLAND HOSPITAL   (United States)

^c RILEY HOSPITAL FOR CHILDREN   (United States)

^d CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF SOUTH DAKOTA   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

cholesterol; Smith Lemli Opitz syndrome; sterol metabolism bile acids; treatment

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHILD GROWTH; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; DIET SUPPLEMENTATION; FEMALE; HUMAN; INFANT; MALE; NERVE CELL DIFFERENTIATION; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; TREATMENT OUTCOME;

ADOLESCENT; BILE ACIDS AND SALTS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; CLINICAL PROTOCOLS; DRUG THERAPY, COMBINATION; FEMALE; HUMANS; INFANT; MALE; SMITH-LEMLI-OPITZ SYNDROME; STEROLS;

EID: 0031051150     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W     Document Type: Article

References (5)

1. Irons M, Elias ER, Sälen G, Tint GS, Batta AK (1993): Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet 341:1414.
2. Irons M, Elias ER, Tint GS, Sälen G, Frieden R, Buie TM, Ampola M (1994): Abnormal cholesterol metabolism in the Smith-LemliOpitz syndrome: Report on clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50:347-352.
3. Shefer S, Sälen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF (1995): Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from SmithLemli-Opitz homozygotes. J Clin Invest 96:1779-1785.
4. Smith DW, Lemli R, Opitz JM (1964): A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210-217.
5. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Sälen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330:107-113.