Unexpected combination of inherited chorea-acanthocytosis with MDR3 (ABCB4) defect mimicking Wilson's disease

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 294-295

  Anheim, M ^a,b   Chamouard, P ^a   Rudolf, G ^a   Ellero, B ^a   Vercueil, L ^c   Goichot, B ^a   Marescaux, C ^a   Tranchant, C ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL MICHALLON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; COPPER; CREATINE KINASE; GAMMA GLUTAMYLTRANSFERASE; MULTIDRUG RESISTANCE PROTEIN 3; MULTIDRUG RESISTANCE PROTEIN 4; PHENOBARBITAL; TETRABENAZINE; URSODEOXYCHOLIC ACID; ZINC SULFATE;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ASCITES; CASE REPORT; CHOREA-ACANTHOCYTOSIS; CHROMOSOME 7; FAMILY HISTORY; GALLBLADDER DISEASE; GALLBLADDER LITHIASIS; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GRAND MAL EPILEPSY; HUMAN; INHERITANCE; JAUNDICE; LETTER; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER TRANSPLANTATION; MALE; MISSENSE MUTATION; MULTIDRUG RESISTANCE PROTEIN 3 DEFICIENCY; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SPLENOMEGALY; THROMBOCYTE COUNT; WILSON DISEASE;

ADULT; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; FAMILY HEALTH; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; NEUROACANTHOCYTOSIS; P-GLYCOPROTEINS; PEDIGREE;

EID: 77955817642     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01386.x     Document Type: Letter

References (5)

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