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Les mucopolysaccharidoses

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Les autres maladies lysosomales

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Zongwei Lin et al. | ESC heart failure 2024; 11(6): 4381-9...
Fabry disease (FD) is a rare X‐linked recessive lysosomal storage disorder caused by pathogenic variants in the GLA gene that result in...

Amal El-Beshlawy et al. | Future Rare Diseases 2024; 4(1):
Gaucher disease is a rare genetic condition. There are three types of Gaucher disease: type 1, type 2, and type 3 (GD3). Symptoms of GD3 include problems...

Elwell Zachary et al. | Journal of Otolaryngology - Head and...
Pediatric obstructive sleep apnea (OSA) is among the most common obstructive airway diseases in the pediatric population. The American Academy of Pediatrics (AAP)...

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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