New treatment strategy for Smith-Lemli-Opitz syndrome [6]

Lancet

Volumn 349, Issue 9060, 1997, Pages 1222-

  Jira, P ^a   Wevers, R ^a   De Jong, J ^a   Rubio Gozalbo, E ^a   Smeitink, J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; CHOLESTEROL TRANSPORT; DIET SUPPLEMENTATION; EXCHANGE BLOOD TRANSFUSION; FEMALE; HUMAN; INFANT; LETTER; MORPHOGENESIS; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

EID: 0030887829     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)62415-4     Document Type: Article

References (5)

1. M Irons ER Elias G Salen GS Tint AK Bastta Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz-Syndrome Lancet 341 1993 1414
2. GS Tint G Salen AK Batta Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome J Pediatr 127 1995 82 87
3. JA Porter KE Young PA Beachy Cholesterol modification of hedgehog signalling proteins in animal development Science 274 1996 255 259
4. M Irons ER Elias D Abuelo GS Tint G Salen Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect Int Pediatr 10 1995 28 32
5. K Ullrich HG Koch D Meschede U Flotmann U Seedorf Smith-Lemli-Opitz syndrome; treatment with cholesterol and bile acids Neuropediatrics 27 1996 111 112