Disorders of bile acid synthesis

Journal of Inherited Metabolic Disease

Volumn 34, Issue 3, 2011, Pages 593-604

  Clayton, Peter Theodore ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CARBOHYDRATE; CHENODEOXYCHOLIC ACID; CHOLESTEROL; CHOLIC ACID; GLYCOCHOLIC ACID; TRIACYLGLYCEROL; URSODEOXYCHOLIC ACID;

3BETA HYDROXYSTEROID DELTA5 C27 STEROID DEHYDROGENASE DEFICIENCY; BILE ACID COENZYME A AMINO ACID N ACYLTRANSFERASE DEFICIENCY; BILE ACID COENZYME A LIGASE DEFICIENCY; BILE ACID SYNTHESIS; CARBOHYDRATE METABOLISM; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTASIS; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC VALUE; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DRUG EFFECT; ELECTROSPRAY MASS SPECTROMETRY; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERBILIRUBINEMIA; LIVER TRANSPLANTATION; NEGATIVE FEEDBACK; NEWBORN SCREENING; OXYSTEROL 7ALPHA HYDROXYLASE DEFICIENCY; PATHOPHYSIOLOGY; STEROID 5BETA REDUCTASE DEFICIENCY; SUBSTITUTION THERAPY;

ADULT; ANIMALS; BILE ACIDS AND SALTS; DIAGNOSTIC TECHNIQUES, ENDOCRINE; HUMANS; METABOLIC DISEASES; METABOLISM, INBORN ERRORS; MODELS, BIOLOGICAL; SIGNAL TRANSDUCTION;

EID: 79959786449     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9259-3     Document Type: Conference Paper

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