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

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Glycogen Storage Disease Type III  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Amylo-1,6-Glucosidase Deficiency
  • Cori Disease
  • Cori's Disease
  • Debrancher Deficiency
  • Deficiency, Debrancher
  • Forbes Disease
  • Glycogen Debrancher Deficiency
  • Glycogen Debranching Enzyme Deficiency
  • Glycogen Storage Disease III
  • Glycogen Storage Disease Type 3
  • Glycogenosis 3
  • Limit Dextrinosis

En otras lenguas

  • Glycogénose de type III

    francés

  • Déficit en amylo-1,6-glucosidase
  • Déficit en enzyme débranchante
  • Dextrinose limite
  • Glycogénose de Forbes-Cori
  • Glycogénose de type 3
  • Glycogénose de type III musculaire
  • Glycogénose type III de Cori
  • Maladie de Cori
  • Maladie de Forbes

URI

http://data.loterre.fr/ark:/67375/JVR-XWWC98LX-N

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RDF/XML TURTLE JSON-LD Creado 12/12/74, última modificación 8/7/13