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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 IV
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type IV

Término preferido

Glycogen Storage Disease Type IV  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Concepto genérico

Etiquetas alternativas

  • Amylopectinosis
  • Andersen Disease
  • Andersen's Disease
  • Brancher Deficiency
  • Deficiency, Brancher
  • Gbe1 Deficiency
  • Glycogen Branching Enzyme Deficiency
  • Glycogen Storage Disease Type 4
  • Glycogenosis 4
  • Glycogenosis IV
  • Type IV Glycogenosis

En otras lenguas

  • Glycogénose de type IV

    francés

  • Amylopectinose
  • Déficit en en enzyme branchante
  • Déficit en enzyme branchante du glycogène
  • Glycogénose d'Andersen
  • Glycogénose de type 4
  • Maladie d'Andersen

URI

http://data.loterre.fr/ark:/67375/JVR-SX495XHP-S

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RDF/XML TURTLE JSON-LD Creado 12/12/74, última modificación 3/7/12