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Concept information

... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type V
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type V

Terme préférentiel

Glycogen Storage Disease Type V  

Type

  • mesh:Descriptor

Définition

  • Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.

Concept générique

Concepts associés

Synonyme(s)

  • Deficiency, Muscle Phosphorylase
  • Glycogenosis 5
  • Glycogen Storage Disease Type 5
  • Glycogen Storage Disease V
  • McArdle Disease
  • McArdle's Disease
  • Mcardle Syndrome
  • McArdle Type Glycogen Storage Disease
  • Muscle Glycogen Phosphorylase Deficiency
  • Muscle Phosphorylase Deficiency
  • Myophosphorylase deficiency
  • PYGM Deficiency

Qualificatif(s) autorisé(s)

Traductions

  • Glycogénose de type V

    français

  • Déficit en myophosphorylase
  • Glycogénose de Mac Ardle
  • Glycogénose de type 5
  • Maladie de Mac Ardle
  • Maladie de Mac Ardle-Schmid-Pearson
  • Maladie de McArdle

URI

http://data.loterre.fr/ark:/67375/JVR-JLDWBQGJ-4

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 08/07/2013