Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2

Journal of Hepatology

Volumn 57, Issue 3, 2012, Pages 695-698

  Gonzales, Emmanuel ^a,b   Grosse, Brigitte ^b   Cassio, Doris ^b   Davit Spraul, Anne ^a   Fabre, Monique ^a   Jacquemin, Emmanuel ^a,b  

^a BICÊTRE HOSPITAL   (France)

^b INSERM   (France)

Author keywords

ABCB11; BSEP; Can 10; PFIC2

Indexed keywords

4 PHENYLBUTYRIC ACID; BILE ACID; BILE SALT EXPORT PUMP; CARRIER PROTEINS AND BINDING PROTEINS; GREEN FLUORESCENT PROTEIN; RIFAMPICIN; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ACUTE GASTROENTERITIS; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BILE SECRETION; CASE REPORT; CHILD; CHILDHOOD DISEASE; CONFOCAL MICROSCOPY; DRUG DOSE INCREASE; FEMALE; GENE MUTATION; GENETIC CODE; HEADACHE; HUMAN; HYPOKALEMIA; IMMUNOHISTOCHEMISTRY; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; LIVER FUNCTION; NONHUMAN; PRIORITY JOURNAL; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2; PROTEIN LOCALIZATION; PRURITUS; RAT; RECOMMENDED DRUG DOSE; SCHOOL CHILD;

ANTINEOPLASTIC AGENTS; ATP-BINDING CASSETTE TRANSPORTERS; BILE ACIDS AND SALTS; CELL LINE; CELL MEMBRANE; CHILD; CHOLESTASIS, INTRAHEPATIC; FEMALE; HUMANS; MUTATION, MISSENSE; PHENYLBUTYRATES; PRURITUS;

EID: 84865142947     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2012.04.017     Document Type: Article

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