相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Genotype-phenotype correlation in Italian children with Wilson's disease
Emanuele Nicastro et al.
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Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease
Uta Merle et al.
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Late-onset Wilson's disease
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Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
G Gromadzka et al.
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Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
E Panagiotakaki et al.
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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease:: results of a meta-analysis
JM Stapelbroek et al.
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A practice guideline on Wilson disease
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HEPATOLOGY (2003)
Diagnosis and phenotypic classification of Wilson disease
P Ferenci et al.
LIVER INTERNATIONAL (2003)
Common mutations of ATP7B in Wilson disease patients from Hungary
G Firneisz et al.
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High prevalence of the H1069Q mutation in East German patients with Wilson disease:: rapid detection of mutations by limited sequencing and phenotype-genotype analysis
K Caca et al.
JOURNAL OF HEPATOLOGY (2001)
Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation
R Palsson et al.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2001)