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Concept information

disease > genetic disease > hereditary disease > mucopolysaccharidosis > Scheie mucopolysaccharidosis
disease > diseases of the osteoarticular system > mucopolysaccharidosis > Scheie mucopolysaccharidosis
disease > metabolic diseases > mucopolysaccharidosis > Scheie mucopolysaccharidosis
disease > enzymopathy > mucopolysaccharidosis > Scheie mucopolysaccharidosis

Terme préférentiel

Scheie mucopolysaccharidosis  

Définition(s)

  • Scheie syndrome is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (GAGs) in the body. It is the most mild subtype of mucopolysaccharidosis type I; the most severe subtype of this disease is called Hurler Syndrome. (Wikipedia)

Concept(s) générique(s)

Synonyme(s)

  • mucopolysaccharidosis I-S

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-LTXXB189-X

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020