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Updated: Jun 23, 2025

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血液造血干细胞移植或酶替代疗法在高氏病3型

Astrid Høj1, Mette Cathrine Ørngreen2, Marie Mostue Naume2

  • 1Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark; Copenhagen Neuromuscular Center Department 8077, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

Molecular genetics and metabolism
|June 23, 2024
PubMed
概括

血液造血干细胞移植 (HSCT) 显示,与酶替代疗法 (ERT) 相比,Gaucher病3型 (GD3) 兄弟姐妹的神经结果更好. HSCT使生物标志物正常化,而ERT没有防止神经衰退.

关键词:
奇托里奥斯酸酶是什么意思酶替代疗法是一种酶替代疗法.戈舍氏病3型 3型的疾病.造血干细胞移植 造血干细胞移植遗传性代谢障碍是一种遗传性代谢障碍.溶酶体储存障碍 溶酶体储存障碍

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