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Human Diseases (thesaurus)

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Concept information

disease > enzymopathy > fucosidosis

Término preferido

fucosidosis  

Definición

  • Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. (Wikipedia)

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/VH8-WCRT6QVG-G

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