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Concept information

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

Preferred term

Sly mucopolysaccharidosis  

Definition

  • Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase. C'est une maladie héréditaire métabolique extrêmement rare caractérisée par une déficience en β-glucuronidase, une enzyme des lysosomes. (Wikipedia)

Broader concept

Synonym(s)

  • MPS7

In other languages

  • mucopolysaccharidose de Sly

    French

  • déficit en bêta-glucuronidase
  • déficit en β-glucuronidase
  • maladie de Sly
  • mucopolysaccharidose 7
  • mucopolysaccharidose de type VII
  • syndrome de Sly

URI

http://data.loterre.fr/ark:/67375/VH8-MBWLKR67-3

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