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中文Tay-Sachs Disease (TSD)
Alias:
Hexosaminidase a Deficiency
Hexa Deficiency
Tsd
Hexosaminidase Alpha-Subunit Deficiency
Gm2-Gangliosidosis, Several Forms
Gm2 Gangliosidosis, B, B1 Variant
Gm2 Gangliosidosis, Type 1
Tay-Sachs Disease Pseudo-Ab Variant
Beta-Hexosaminidase a Deficiency
B Variant Gm2-Gangliosidosis
B Variant Gm2 Gangliosidosis
Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Variant B1
Sphingolipidosis, Tay-Sachs
Gm2-Gangliosidosis, Type I
Gm2 Gangliosidosis, Type I
Hex a Pseudodeficiency
Gm2-Gangliosidosis 1
Gangliosidoses, Gm2
Hexa Disorders
Gm2g1
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Tay-Sachs病，又称己糖胺酶A缺乏症，与GM2-溶酶体病，AB变异型和GM1-溶酶体病，类型I有关，症状包括背痛、头痛和疼痛。与Tay-Sachs病有关的重要基因是HEXA（己糖胺酶亚基α），其相关通路/超级通路包括代谢和鞘脂代谢。在该疾病的背景下提到了药物Miglustat和糖苷水解抑制剂。附属组织包括脊髓和眼睛，相关表型为肌肉无力和骨骼肌萎缩。
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MALACARDS
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