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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis III
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis III

Término preferido

Mucopolysaccharidosis III  

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Tipo

  • mesh:Descriptor

Definición

  • Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.

Concepto genérico

Etiquetas alternativas

  • Mucopolysaccharidosis 3
  • Polydystrophic Oligophrenia
  • San Filippo's Syndrome
  • Sanfilippo Syndrome
  • Sanfilippo's Syndrome

En otras lenguas

  • Mucopolysaccharidose de type III

    francés

  • Maladie de Sanfilippo
  • MPS III
  • Mucopolysaccharidose de San Filipo
  • Mucopolysaccharidose de Sanfilippo
  • Mucopolysaccharidose de type 3
  • Oligophrénie polydystrophique de Lamy-Maroteaux
  • Oligophrénie polydystrophique de Maroteaux et Lamy

URI

http://data.loterre.fr/ark:/67375/JVR-N7VKGRFD-5

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RDF/XML TURTLE JSON-LD Creado 12/12/74, última modificación 28/6/16