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MeSH 搜索器

Sialic Acid Storage Disease

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.
推出的年份: 2002
副标题
树号: C10.228.140.163.100.435.810, C16.320.565.189.435.810, C16.320.565.595.554.810, C18.452.132.100.435.810, C18.452.648.189.435.810, C18.452.648.595.554.810
MeSH 单一 ID: D029461
进入的组:
  • Sialuria
  • Sialurias
  • Infantile Sialic Acid Storage Disease
  • French Type Sialuria
  • Sialic Acid Storage Disease, Infantile Form
  • Sialuria, Infantile Form
  • Infantile Form Sialuria
  • Infantile Form Sialurias
  • Sialurias, Infantile Form
  • Infantile Sialic Acid Storage Disorder
  • Infantile Sialic Acid Storage Disorder (ISSD)
  • Salla Disease
  • Sialuria, Finnish Type
  • Finnish Type Sialuria
  • Finnish Type Sialurias
  • Sialurias, Finnish Type
  • Sialic Acid Storage Disease, Finnish Type
早前的内容:
  • Carbohydrate Metabolism, Inborn Errors (1986-2001)
  • Lysosomal Storage Diseases (1991-2001)

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