Direct diagnosis of Wilson disease by molecular genetics

Journal of Pediatrics

Volumn 148, Issue 1, 2006, Pages 138-140

  Caprai, Silvia ^b   Loudianos, Georgios ^b   Massei, Francesco ^b   Gori, Laura ^b   Lovicu, Mario ^b   Maggiore, Giuseppe ^a  

^a SANTA CHIARA HOSPITAL   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; COPPER; GAMMA GLUTAMYLTRANSFERASE; PENICILLAMINE; WILSON DISEASE PROTEIN;

ADOLESCENT; ARTICLE; BODY MASS; CASE REPORT; CHRONIC LIVER DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; COPPER METABOLISM; ECHOGRAPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIVER BIOPSY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONALCOHOLIC FATTY LIVER; PRIORITY JOURNAL; SCHOOL CHILD; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ANTIDOTES; CATION TRANSPORT PROTEINS; CHILD; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PENICILLAMINE; RETROSPECTIVE STUDIES; SEQUENCE DELETION; TREATMENT OUTCOME;

EID: 30744437439     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2005.07.036     Document Type: Article

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