Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease

Wilson disease (WD) is an inherited disorder of hepatic copper metabolism with considerable variation in clinical presentations, the most common ones being liver disease and neuropsychiatric disturbances. This study investigated the clinical presentation in relation to mutations in a large cohort of...

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Veröffentlicht in:	Hepatology (Baltimore, Md.) Md.), 2019-04, Vol.69 (4), p.1464-1476
Hauptverfasser:	Ferenci, Peter, Stremmel, Wolfgang, Członkowska, Anna, Szalay, Ferenc, Viveiros, André, Stättermayer, Albert Friedrich, Bruha, Radan, Houwen, Roderick, Pop, Tudor Lucian, Stauber, Rudolf, Gschwantler, Michael, Pfeiffenberger, Jan, Yurdaydin, Cihan, Aigner, Elmar, Steindl‐Munda, Petra, Dienes, Hans‐Peter, Zoller, Heinz, Weiss, Karl Heinz
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adolescents Adult Age of Onset Biopsy Child Children Cirrhosis Copper-Transporting ATPases - genetics Diagnosis DNA Mutational Analysis Female Females Gene frequency Genotypes Hepatolenticular Degeneration - genetics Hepatolenticular Degeneration - pathology Hepatology Humans Liver - pathology Liver cirrhosis Liver diseases Male Mental disorders Mutation Neurological diseases Nucleotide sequence Phenotype Phenotypes Registries Sex Factors Wilson's disease Young Adult
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