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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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Principais autores: Shoji Yano, Rachel McGowan, Mikako Warren
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2024-09-01
סדרה:Molecular Genetics and Metabolism Reports
נושאים:
Histopathological study
Enzyme replacement therapy (ERT)
Gaucher disease
Hearing loss
Gaucheroma
Substrate reduction therapy (SRT)
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S2214426924000594
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