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Les mucopolysaccharidoses

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Les autres maladies lysosomales

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Dumitriu Alexandra et al. | Orphanet Journal of Rare Diseases 2025;...
Fabry disease (FD; OMIM #301500) is a rare multisystemic X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA)...

Lake Ashleigh et al. | Orphanet Journal of Rare Diseases 2025;...
Given that the product of glucosylceramide (GlcCer) catabolism is ceramide, it is reasonable to assume that cells will produce less ceramide in Gaucher...

Bianca Link et al. | JIMD reports 2024; 65(1): 17-24
Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, life‐limiting, X‐linked lysosomal storage disease. It is caused...

Aglina Lika et al. | European Journal of Neurology 2024;...
Pompe disease is a rare, inheritable and progressive metabolic myopathy. It is caused by partial or total deficiency of the lysosomal enzyme acid alpha‐glucosidase,...

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