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Begreppsinformation

Föredragen term

Globoidcellsleukodystrofi  

Typ

  • Ämne

Hänvisningstermer

  • Krabbes sjukdom
  • Sen debut av globoidcellsleukodystrofi
  • Tidig debut av globoidcellsleukodystrofi

Användningsanmärkning

  • En autosomalt recessiv ämnesomsättningssjukdom orsakad av brist på galaktosylceramidas, vilken leder till ansamling av galaktolipider, så som galaktosylceramider och psykosin, i lysosomerna. Sjukdomen kännetecknas av myelinförlust förenad med stora, flerkärniga globoidceller, främst i centrala nervsystemets vita substans. Förlusten av myelin avbryter normal överföring av nervimpulser.

Termer på andra språk

  • engelska

  • beta-Galactosidase Deficiencies, Galactosylceramide
  • beta-Galactosidase Deficiency, Galactosylceramide
  • Cell Leukoencephalopathies, Globoid
  • Cell Leukoencephalopathy, Globoid
  • Deficiencies, Galactocerebrosidase
  • Deficiencies, Galactosylceramide beta-Galactosidase
  • Deficiencies, GALC
  • Deficiency Disease, Galactosylceramidase
  • Deficiency Disease, Galactosylceramide-beta-Galactosidase
  • Deficiency Diseases, Galactosylceramidase
  • Deficiency Diseases, Galactosylceramide-beta-Galactosidase
  • Deficiency, Galactocerebrosidase
  • Deficiency, Galactosylceramide beta-Galactosidase
  • Deficiency, GALC
  • Diffuse Globoid Body Sclerosis
  • Disease, Galactosylceramidase Deficiency
  • Disease, Galactosylceramide-beta-Galactosidase Deficiency
  • Diseases, Galactosylceramidase Deficiency
  • Diseases, Galactosylceramide-beta-Galactosidase Deficiency
  • Galactocerebrosidase Deficiencies
  • Galactocerebrosidase Deficiency
  • Galactosylceramidase Deficiency Disease
  • Galactosylceramidase Deficiency Diseases
  • Galactosylceramide beta Galactosidase Deficiency
  • Galactosylceramide beta Galactosidase Deficiency Disease
  • Galactosylceramide beta-Galactosidase Deficiencies
  • Galactosylceramide beta-Galactosidase Deficiency
  • Galactosylceramide Lipidosis
  • Galactosylceramide-beta-Galactosidase Deficiency Disease
  • Galactosylceramide-beta-Galactosidase Deficiency Diseases
  • Galactosylcerebrosidase Deficiency
  • Galactosylsphingosine Lipidosis
  • GALC Deficiencies
  • GALC Deficiency
  • Globoid Body Sclerosis, Diffuse
  • Globoid Cell Leukodystrophy
  • Globoid Cell Leukoencephalopathies
  • Globoid Cell Leukoencephalopathy
  • Globoid Leukodystrophies
  • Globoid Leukodystrophy
  • Krabbe Disease
  • Krabbe Leukodystrophy
  • Krabbe's Disease
  • Krabbe's Leukodystrophy
  • Krabbes Disease
  • Krabbes Leukodystrophy
  • Leukodystrophies, Globoid
  • Leukodystrophy, Globoid
  • Leukodystrophy, Krabbe
  • Leukodystrophy, Krabbe's
  • Leukoencephalopathies, Globoid Cell
  • Leukoencephalopathy, Globoid Cell
  • Psychosine Lipidosis
  • finska

  • Krabbe
  • morbus Krabbe

URI

http://www.yso.fi/onto/mesh/D007965

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RDF/XML TURTLE JSON-LD Skapad 1999-01-01, senast editerad 2021-07-01