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LYSOSOMAL STORAGE DISEASE [1 record]

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Record 1 2010-04-12

English

Subject field(s)
  • Genetics
CONT

My reseach concentrates in the area of human biochemical and molecular genetic studies of lysosomal enzymes involved in dermatan sulfate, heparin, and heparin sulfate degradation. A deficiency in any one of the enzymes causes a human genetic lysosomal storage disease known as mucopolysaccharidosis.

French

Domaine(s)
  • Génétique
CONT

Les maladies lysosomales sont des affections monogéniques dues au déficit des enzymes intralysosomales impliquées dans le catabolisme de macromolécules. Leur gravité clinique est l'absence, pour la plupart d'entre elles, de traitement efficace rendant prioritaires les tentatives de mises au point de thérapies géniques.

Spanish

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