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.
MeSH terms
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1-Deoxynojirimycin / analogs & derivatives
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1-Deoxynojirimycin / therapeutic use
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Adolescent
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Adult
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Aged
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Child
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Child, Preschool
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Enzyme Inhibitors / therapeutic use
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Female
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France / epidemiology
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Gaucher Disease / complications
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Gaucher Disease / drug therapy
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Gaucher Disease / epidemiology
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Gaucher Disease / genetics
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Gaucher Disease / therapy*
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Glucosylceramidase / therapeutic use
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Hospitalization
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Humans
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Infant
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Infant, Newborn
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Male
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Middle Aged
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Parkinsonian Disorders / complications
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Registries*
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Saposins / deficiency
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Treatment Outcome
Substances
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Enzyme Inhibitors
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Saposins
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1-Deoxynojirimycin
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miglustat
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Glucosylceramidase
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imiglucerase