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Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients

BACKGROUND: In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatm...

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Detalles Bibliográficos
Autores principales: Abdel Ghaffar, Tawhida Y, Elsayed, Solaf M, Elnaghy, Suzan, Shadeed, Ahmed, Elsobky, Ezzat S, Schmidt, Hartmut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132721/
https://www.ncbi.nlm.nih.gov/pubmed/21682854
http://dx.doi.org/10.1186/1471-2431-11-56