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Leukodystrophy, Metachromatic  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

Etiquetas alternativas

  • Arylsulfatase A Deficiency Disease
  • Cerebral sclerosis, Diffuse, Metachromatic Form
  • Cerebroside Sulphatase Deficiency Disease
  • Metachromatic Leukodystrophy
  • Metachromatic Leukoencephalopathy
  • Sulfatide Lipidosis

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-L25DCMW5-3

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