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...

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Hlavní autoři: Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3526516/
https://ncbi.nlm.nih.gov/pubmed/23046562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-77
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