ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia

Journal of Hepatology

Volumn 66, Issue 3, 2017, Pages 581-588

  Monte, Maria J ^a,c   Alonso Peña, Marta ^a   Briz, Oscar ^a,c   Herraez, Elisa ^a,c   Berasain, Carmen ^b,c   Argemi, Josepmaria ^b   Prieto, Jesus ^b,c   Marin, Jose J G ^a,c  

^a UNIVERSITY OF SALAMANCA   (Spain)

^b UNIVERSITY OF NAVARRA   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Bile acid metabolism; Cholestatic liver diseases; Drug induced hepatotoxicity; Genetic disorder

Indexed keywords

ACYL COENZYME A OXIDASE; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLIC ACID; DEOXYCHOLIC ACID; DICLOFENAC; GLYCOCHENODEOXYCHOLIC ACID; GLYCOCHOLIC ACID; GLYCODEOXYCHOLIC ACID; GLYCOLITHOCHOLIC ACID; GLYCOURSODEOXYCHOLIC ACID; IBUPROFEN; LITHOCHOLIC ACID; TAUROCHENODEOXYCHOLIC ACID; TAUROCHOLIC ACID; TAUROLITHOCHOLIC ACID; TAUROSULFOLITHOCHOLIC ACID; TAUROURSODEOXYCHOLIC ACID; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; ACOX2 PROTEIN, HUMAN; AMINOTRANSFERASE; MUTANT PROTEIN; OXIDOREDUCTASE; RECOMBINANT PROTEIN;

ACUTE HEPATITIS; ACYL COENZYME A OXIDASE 2 DEFICIENCY; ADOLESCENT; ARTICLE; BILE ACID BLOOD LEVEL; BILE ACID SYNTHESIS; BIOTRANSFORMATION; BLOOD SAMPLING; CASE REPORT; CONJUGATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE OVEREXPRESSION; GENETIC ANALYSIS; HEP-G2 CELL LINE; HUMAN; HUMAN CELL; HYPERTRANSAMINASEMIA; IMMUNOFLUORESCENCE; INBORN ERROR OF METABOLISM; LIMIT OF DETECTION; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; TIME OF FLIGHT MASS SPECTROMETRY; TOXIC HEPATITIS; URINE SAMPLING; BIOSYNTHESIS; BLOOD; CHEMISTRY; DEFICIENCY; FEMALE; GENETICS; HOMOZYGOTE; INBORN ERROR OF STEROID METABOLISM; METABOLISM; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; BASE SEQUENCE; BILE ACIDS AND SALTS; FEMALE; HEP G2 CELLS; HOMOZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MUTANT PROTEINS; MUTATION, MISSENSE; OXIDOREDUCTASES; PEDIGREE; RECOMBINANT PROTEINS; STEROID METABOLISM, INBORN ERRORS; TRANSAMINASES;

EID: 85008147423     PISSN: 01688278     EISSN: 16000641     Source Type: Journal    
DOI: 10.1016/j.jhep.2016.11.005     Document Type: Article

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