Congenital brain anomalies in distal cholesterol biosynthesis defects

Journal of Inherited Metabolic Disease

Volumn 28, Issue 3, 2005, Pages 385-392

  Hennekam, R C ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; 7 DEHYDROCHOLESTEROL; CHOLESTEROL; DESMOSTEROL; LAMIN B; LATHOSTEROL; OXIDOREDUCTASE; SONIC HEDGEHOG PROTEIN;

BIOCHEMISTRY; BRAIN DEVELOPMENT; BRAIN FUNCTION; BRAIN MALFORMATION; CALCIFYING CHONDRODYSTROPHY; CENTRAL NERVOUS SYSTEM; CHOLESTEROL METABOLISM; CHOLESTEROL SYNTHESIS; CHROMOSOME 11Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME XP; CHROMOSOME XQ; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISORDERS OF CHOLESTEROL METABOLISM; GENE MUTATION; HUMAN; LIMB DEFECT; PATHOGENESIS; SHORT SURVEY; SMITH LEMLI OPITZ SYNDROME;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; HUMANS; SMITH-LEMLI-OPITZ SYNDROME; STEROLS;

EID: 19444380372     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-7055-2     Document Type: Short Survey

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