Gaucher disease (Q62034): Difference between revisions
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A doença de Gaucher é um distúrbio de armazenamento lisossômico pela presença de depósitos de glicosilceramida (ou glucocerebrosídeo) nas células reticuloendoteliais do fígado, baço e medula óssea, e abrangendo três formas principais (tipos 1, 2 e 3), uma forma fetal e uma variante com envolvimento cardíaco (doença de Gaucher - oftalmoplegia - calcificação cardiovascular ou doença do tipo Gaucher). | |||
| description / en | description / en | ||
Gaucher disease is a lysosomal storage disorder by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, and encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). | |||
Revision as of 09:32, 14 August 2026
Gaucher disease is a lysosomal storage disorder by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, and encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1923566939 |
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| English | Gaucher disease |
Gaucher disease is a lysosomal storage disorder by the presence of glucosylceramide (or glucocerebroside) deposits in the reticuloendothelial cells of the liver, spleen and bone marrow, and encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). |
