Maladie de Fabry et cystinose, deux maladies lysosomales : similitudes et différences

La Revue de Médecine Interne(2010)

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摘要
Fabry disease and cystinosis are both lysosomal diseases. Some clinical features (such as renal and corneal involvement) are shared by both diseases whereas many other features are different (mode of inheritance, rate of progression, mechanism of lysosomal storage, therapeutic modalities etc.). Intermediary mechanisms that lead from lysosomal overload to lesions and disease are still incompletely understood.
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maladies,maladie de
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