Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)

Journal of Inherited Metabolic Disease

Volumn 40, Issue 6, 2017, Pages 771-781

  Salen, Gerald ^a   Steiner, Robert D ^b  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODAL; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTANOL; CHOLESTEROL 24 HYDROXYLASE; CHOLESTEROL 7ALPHA MONOOXYGENASE; CHOLESTEROL ESTER TRANSFER PROTEIN; CHOLIC ACID; CLOFIBRATE; COLESTYRAMINE; CYTOCHROME P450 FAMILY 8; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; PRAVASTATIN; STEROL 14ALPHA DEMETHYLASE; CHOLESTEROL;

AFRICAN; AMERICAN; APHERESIS; ATAXIA; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; BILE ACID SYNTHESIS; BONE DENSITY; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTEROL SYNTHESIS; CHRONIC DIARRHEA; DEMENTIA; DIARRHEA; DISEASE COURSE; DISEASE SEVERITY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DRUZE; DYSARTHRIA; EAST ASIAN; ELECTROMYOGRAPHY; ELECTROSPRAY MASS SPECTROMETRY; EUROPEAN; EVOKED BRAIN STEM AUDITORY RESPONSE; FAMILIAL HYPERCHOLESTEROLEMIA; GENE FREQUENCY; HUMAN; INCIDENCE; INTELLECTUAL IMPAIRMENT; ISRAELI; JEW; LIQUID CHROMATOGRAPHY; LIVER DYSFUNCTION; LIVER TOXICITY; MENTAL DISEASE; MOOD DISORDER; NAUSEA; NERVE CONDUCTION VELOCITY; NEUROLOGIC DISEASE; NORTH AMERICAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSTRUCTIVE JAUNDICE; ONSET AGE; PERSONALITY DISORDER; PES CAVUS; REVIEW; SOMATOSENSORY EVOKED POTENTIAL; SOUTH ASIAN; SPANIARD; SPASTICITY; SYMPTOM; ANIMAL; BLOOD; DISEASE EXACERBATION; EARLY DIAGNOSIS;

ANIMALS; CHENODEOXYCHOLIC ACID; CHOLESTEROL; DISEASE PROGRESSION; EARLY DIAGNOSIS; HUMANS; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 85030527002     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-017-0093-8     Document Type: Review

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