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Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sialic Acid Storage Disease

Terme préférentiel

Sialic Acid Storage Disease  

Type

  • mesh:Descriptor

Définition

  • Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.

Concept générique

Synonyme(s)

  • Sialuria

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de surcharge en acide sialique

    français

  • Anomalie du stockage en acide sialique
  • Maladie de la surcharge en acide sialique
  • Maladie de surcharge en acide sialique libre (SSD)
  • Sialurie

URI

http://data.loterre.fr/ark:/67375/JVR-NB4HZCPM-Q

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RDF/XML TURTLE JSON-LD Date de création 25/07/2001, dernière modification le 08/07/2013