2 results match your criteria: "Centre de compétence des maladies lysosomales de l'adulte[Affiliation]"
[Fabry disease: A review].
Rev Med Interne
February 2021
Centre de compétence des maladies lysosomales de l'adulte, hôpital Joseph-Ducuing, 31076 Toulouse, France; Service de médecine interne, hôpital Joseph-Ducuing, 31076 Toulouse, France.
Fabry disease is the second most frequent lysosomal storage disorder. It is a X-linked genetic disease secondary to alpha-galactosidase A enzyme deficiency. This is a progressive and systemic disease that affects both males and females.
View Article and Find Full Text PDF[Mucopolysaccharidosis: A review].
Rev Med Interne
March 2020
Centre de compétence des maladies lysosomales de l'adulte, hôpital Joseph-Ducuing, 31076 Toulouse, France; Médecine interne, hôpital Joseph-Ducuing, 31076 Toulouse, France.
Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.
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