ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 40, 2016, Pages 11289-11293

  Vilarinho, Sílvia ^a   Sari, Sinan ^b   Mazzacuva, Francesca ^c   Bilgüvar, Kaya ^a   Esendagli Yilmaz, Güldal ^b   Jain, Dhanpat ^a   Akyol, Gülen ^b   Dalgiç, Buket ^b   Günel, Murat ^a   Clayton, Peter T ^c   Lifton, Richard P ^a,d  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GAZI UNIVERSITY   (Turkey)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ROCKEFELLER UNIVERSITY   (United States)

Author keywords

Bile acid metabolism; Branched chain acyl CoA oxidase; Idiopathic liver disease; Peroxisomal disorder; Whole exome sequencing

Indexed keywords

ACYL COENZYME A OXIDASE; ACYL COENZYME A OXIDASE 2; ALANINE AMINOTRANSFERASE; AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILE ACID; UNCLASSIFIED DRUG; ACOX2 PROTEIN, HUMAN; OXIDOREDUCTASE;

ACUTE GASTROENTERITIS; ARTICLE; ATAXIA; ATAXIC GAIT; BILE ACID SYNTHESIS; BILE ACID SYNTHESIS DISORDER; BIOCHEMICAL ANALYSIS; CASE REPORT; CHILD; COGNITIVE DEFECT; DYSMETRIA; ENZYME DEFICIENCY; EXOME; GAZE PARALYSIS; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYPERTRANSAMINASEMIA; HYPOLIPEMIA; IMMUNOHISTOCHEMISTRY; LANGUAGE DELAY; LIVER BIOPSY; LIVER FIBROSIS; LOSS OF FUNCTION MUTATION; MALABSORPTION; MALE; METABOLIC DISORDER; PREMATURE TERMINATION MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SLURRED SPEECH; STEATORRHEA; VOMITING; BIOSYNTHESIS; CHEMISTRY; COMPLICATION; DEFICIENCY; ENZYMOLOGY; GENETICS; HOMOZYGOTE; INFANT; LIVER; LIVER CIRRHOSIS; METABOLISM; MUTATION; NEWBORN; OXIDATION REDUCTION REACTION; PATHOLOGY;

ATAXIA; BILE ACIDS AND SALTS; CHILD; COGNITIVE DYSFUNCTION; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LIVER; LIVER CIRRHOSIS; LOSS OF FUNCTION MUTATION; MALE; MUTATION; OXIDATION-REDUCTION; OXIDOREDUCTASES; TRANSAMINASES;

EID: 84989817007     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1613228113     Document Type: Article

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