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Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy

Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated Gaucher cells. Gaucher cells accumulate in variable tissu...

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Hlavní autoři: Shoji Yano, Rachel McGowan, Mikako Warren
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2024-09-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Histopathological study
Enzyme replacement therapy (ERT)
Gaucher disease
Hearing loss
Gaucheroma
Substrate reduction therapy (SRT)
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426924000594
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