The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients

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

doi:10.1186/1750-1172-7-77

Scientific article

Open access

English

The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients

Published inOrphanet journal of rare diseases, vol. 7, 77

Publication date2012

Abstract

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.

Keywords

Adolescent
Adult
Aged
Child
Child, Preschool
Female
France/epidemiology
Gaucher Disease/complications/epidemiology/pathology/therapy
Humans
Incidence
Infant
Infant, Newborn
Male
Middle Aged
Splenectomy
Young Adult

Affiliation

Faculté de médecine / Section de médecine clinique / Département de réadaptation et gériatrie

Research group

Groupe Perrier Arnaud (Médecine interne générale, de réhabilitation et de gériatrie) (585)

Citation (ISO format)

STIRNEMANN, Jérôme et al. The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients. In: Orphanet journal of rare diseases, 2012, vol. 7, p. 77. doi: 10.1186/1750-1172-7-77

Article (Published version)

Identifiers

PID : unige:78658
DOI : 10.1186/1750-1172-7-77
PMID : 23046562

ISSN of the journal1750-1172

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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients

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.

Technical informations