Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. - Wikidata - awgldk - TriplyDB

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

http://www.wikidata.org/entity/Q33935371

about

Canine Models for Copper Homeostasis Disorders Combination Therapy Using Chelating Agent and Zinc for Wilson’s Disease Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype Genetics of consanguinity and inbreeding in health and disease.A review and current perspective on Wilson disease.The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.Gastrointestinal side effects in children with Wilson's disease treated with zinc sulphate.Geographic distribution of ATP7B mutations in Wilson disease.Factors that predict mortality in children with Wilson disease associated acute liver failure and comparison of Wilson disease specific prognostic indices.Wilson disease in a Nigerian child: a case report The genetics of Wilson disease.Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance Prominent extensor truncal dystonia in Egyptian patients with Wilson's disease.Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.Comprehensive analysis on clinical features of Wilson's disease: an experience over 28 years with 133 cases.Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

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P2860

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

http://www.wikidata.org/entity/Q33935371

description

2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

@zh-hk

2011年論文

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2011年論文

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2011年论文

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name

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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type

label

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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prefLabel

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients

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Ahmed Shadeed

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Ezzat S Elsobky

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Hartmut Schmidt

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Suzan Elnaghy

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Tawhida Y Abdel Ghaffar

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P2860

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin.

Diagnosis and phenotypic classification of Wilson disease.

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Fulminant hepatic failure resulting from coexistent Wilson's disease and hepatitis E

Treatment of Wilson's disease with zinc: XV long-term follow-up studies.

Diagnosis and treatment of Wilson disease: an update.

Perspectives on Wilson's disease.

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Solaf Mohamed Elsayed

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