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Les mucopolysaccharidoses

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Les autres maladies lysosomales

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Boettcher, Tobias et al. | Neurology Genetics . Volume 11(4).
Fabry disease (FD) is a multisystemic disorder caused by pathogenic variants in the [alpha]-galactosidase (GLA) gene. There is ongoing debate on the disease-causing...

Mak, Michael Y. K. MD et al. | Retinal Cases and Brief Reports. Volume...
The of this study was to report a case and management of vitreous abnormalities in a patient with Gaucher disease. Methods: This was a case report.......

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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