Progressive familial intrahepatic cholestasis type 3: Overlapping presentation with Wilson disease

Clinical Pediatrics

Volumn 51, Issue 7, 2012, Pages 689-691

  Ramraj, Ramya ^a   Finegold, Milton J ^a   Karpen, Saul J ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCB4 PROTEIN; ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CERULOPLASMIN; CHELATING AGENT; COPPER; GAMMA GLUTAMYLTRANSFERASE; TRIENTINE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ADOLESCENT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALBUMIN BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; ASCITES; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHELATION THERAPY; CHILD; CLINICAL FEATURE; DRUG WITHDRAWAL; FAMILIAL DISEASE; FEMALE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; LIVER BIOPSY; LIVER LEVEL; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3; URINE LEVEL; WILSON DISEASE;

ADOLESCENT; CHILD; CHOLESTASIS, INTRAHEPATIC; COPPER; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; LIVER CIRRHOSIS; MALE; P-GLYCOPROTEINS;

EID: 84862750548     PISSN: 00099228     EISSN: 19382707     Source Type: Journal    
DOI: 10.1177/0009922812451076     Document Type: Article

References (6)

1. Deleuze JF, Jacquemin E, Dubuisson C, et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology. 1996 ; 23: 904-908
2. Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001 ; 120: 1448-1458
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5. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. 1993 ; 5: 327-337
6. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993 ; 5: 344-350