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Tay-sachs

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Tay–Sachs
Tay-sachsUMich.jpg
Cherry-red spot as seen in Tay–Sachs disease: the fovea's center appears bright red because it is surrounded by a milky halo.
类型胞溶體貯積症, GM2 gangliosidosis[*], eye degenerative disease[*]
分类和外部资源
醫學專科醫學遺傳學
ICD-10E75.0
ICD-9-CM330.1
OMIM272800 272750
DiseasesDB12916
MedlinePlus001417
eMedicineped/3016
Patient UK英语Patient UKTay-Sachs-Disease Tay-sachs
MeSHD013661
Orphanet845

Tay-Sachs家族黑蒙性癡呆症溶酶体缺少氨基己糖酯酶A,导致神经节甘脂GM2积累,影响细胞功能,造成精神性痴呆

参考资料[编辑]

  • PLoS Genet. 2012 Sep;8(9):e1002943. doi: 10.1371/journal.pgen.1002943. Epub 2012
  • Sep 20.Characterization of inducible models of tay-sachs and related disease.
  • Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.

外部連結[编辑]