Urinary bile acids and peroxisomal bifunctional enzyme deficiency

American Journal of Medical Genetics

Volumn 63, Issue 2, 1996, Pages 356-362

  Natowicz, Marvin R ^a,b,d   Evans, James E ^a,b   Kelley, Richard I ^c   Moser, Ann B ^c   Watkins, Paul A ^c   Moser, Hugo W ^c  

^a Shriver Ctr for Mental Retardation   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

bifunctional enzyme; bile acids; cholestanoates; cholestenoates; peroxisomal disease; peroxisome

Indexed keywords

BILE ACID; CHOLESTANOL;

ARTICLE; BILE ACID METABOLISM; ENZYME DEFICIENCY; ENZYME MECHANISM; FAST ATOM BOMBARDMENT MASS SPECTROMETRY; FATTY ACID OXIDATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; METABOLIC REGULATION; PEROXISOME; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REACTION ANALYSIS;

3-HYDROXYACYL COA DEHYDROGENASES; BILE ACIDS AND SALTS; ENOYL-COA HYDRATASE; HUMANS; ISOMERASES; MOLECULAR STRUCTURE; MULTIENZYME COMPLEXES; PEROXISOMAL DISORDERS; SPECTROMETRY, MASS, FAST ATOM BOMBARDMENT;

EID: 0029980185     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960517)63:2<356::AID-AJMG6>3.0.CO;2-R     Document Type: Article

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