title: [Organization of Gaucher disease management in France].
abstract: Gaucher disease management in France is facilitated by CETG (Comitee of Evaluation and Treatment of Gaucher disease). Four hundred and fifty-six patients are enrolled in 2006 in the French Gaucher registry of CETG. Two hundred and thirty patients had treatment. Eighty five % are type 1, 10.5% type 2 and 5.5% type 3. Only 1 patient had a saposin C deficiency. Information on CETG is available on www.cetl.net.
authors.affiliation: Service de Médecine Interne - Assistance Publique-Hôpitaux de Paris, Centre de Référence des Maladies Lysosomales (CRML), Hôpital Jean-Verdier, 93140 Bondy, France. jerome.stirnemann@jvr.aphp.fr
authors.forename: J
authors.initials: J
authors.lastname: Stirnemann
authors.forename: T Billette
authors.initials: TB
authors.lastname: de Villemeur
authors.forename: N
authors.initials: N
authors.lastname: Belmatoug
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D005602:France / Q000453:epidemiology; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use; D006760:Hospitalization; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000150:complications; D012042:Registries; D049231:Saposins / Q000172:deficiency; D016896:Treatment Outcome
chemical_list: D004791:Enzyme Inhibitors; D049231:Saposins; D017485:1-Deoxynojirimycin; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase