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The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
BACKGROUND: Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described. METHODS: All patients with known GD, living in France, with ≥1 consultations (1980–2010), wer...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526516/ https://www.ncbi.nlm.nih.gov/pubmed/23046562 http://dx.doi.org/10.1186/1750-1172-7-77 |