Cerebrotendinous xanthomatosis (CTX): A treatable lipid storage disease

Pediatric Endocrinology Reviews

Volumn 7, Issue 1, 2009, Pages 6-11

  Keren, Zohar ^a   Falik Zaccai, Tzipora C ^a,b  

^a WESTERN GALILEE HOSPITAL   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

CDCA; Cerebrotendinous xanthomatosis; Lipid storage disease; Sterol 27 hydroxylase

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANOL; CHOLESTEROL; CHOLIC ACID; DIPHENYLPYRALINE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LEVODOPA; STEROL 27 HYDROXYLASE; CHOLESTANETRIOL 26 MONOOXYGENASE; GASTROINTESTINAL AGENT;

ARTERIOSCLEROSIS; CATARACT; CATARACT EXTRACTION; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL METABOLISM; CHROMOSOME 2Q; CLINICAL FEATURE; DIARRHEA; FRACTURE; GENE DELETION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; OSTEOPOROSIS; PARKINSONISM; REVIEW; SEIZURE; ANIMAL; ENZYMOLOGY; GENETIC SCREENING; GENETICS; MUTATION; TREATMENT OUTCOME;

ANIMALS; CHENODEOXYCHOLIC ACID; CYTOCHROME P-450 CYP27A1; GASTROINTESTINAL AGENTS; GENETIC COUNSELING; GENETIC SCREENING; HUMANS; MUTATION; TREATMENT OUTCOME; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 70349560303     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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