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MALADIE GAUCHER [1 record]
Record 1 - internal organization data 2011-02-18
Record 1, English
Record 1, Subject field(s)
- Endocrine System and Metabolism
Record 1, Main entry term, English
- Gaucher's disease
1, record 1, English, Gaucher%27s%20disease
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of glucocerebrosidase. 1, record 1, English, - Gaucher%27s%20disease
Record number: 1, Textual support number: 1 CONT
[Gaucher's disease] may occur in adults but occurs most severely in infants, in whom cerebroside also accumulates in neurons; marked by hepatosplenomegaly, lymphadenopathy, and bone destruction by characteristic cells containing cytoplasmic tubules; autosomal recessive inheritance. 1, record 1, English, - Gaucher%27s%20disease
Record 1, French
Record 1, Domaine(s)
- Systèmes endocrinien et métabolique
Record 1, Main entry term, French
- maladie de Gaucher
1, record 1, French, maladie%20de%20Gaucher
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie héréditaire du métabolisme des sphingolipides, et génétique de transmission autosomique récessive, due au déficit en b-glucosidase acide. Elle est classée parmi les maladies lysosomales. 2, record 1, French, - maladie%20de%20Gaucher
Record number: 1, Textual support number: 1 OBS
Le déficit enzymatique conduit à l'accumulation pathologique du substrat (glucocérébroside) dans les lysosomes. Cette surcharge métabolique est responsable d'une maladie polyviscérale avec hépatosplénomégalie, infiltration de la moelle osseuse avec anémie et thrombopénie, et atteinte osseuse. L'atteinte neurologique est plus rare, définissant les maladies de Gaucher de type 2 et 3. 1, record 1, French, - maladie%20de%20Gaucher
Record 1, Spanish
Record 1, Textual support, Spanish
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