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Les mucopolysaccharidoses

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Les autres maladies lysosomales

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Kubo, Toru et al. | International Journal of Cardiology...
Fabry disease (FD) is an important disease in the cardiovascular field because a significant proportion of patients with FD die from cardiac lesions. A...

José F Contreras et al. | Journal of surgical case reports. Volume...
We present a rare case of a pediatric patient diagnosed with Gaucher disease, a lysosomal storage disorder, co-occurring with hallux duplication and syndactyly,...

Anushka Viswanathan et al. | Human Molecular Genetics. Volume 35(5)....
Molecular genetic testing is increasingly used in clinical care to identify genetic variants and their impact on disease burden. However, variants of uncertain...

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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