Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey.
Molecular Genetics and Metabolism Reports(2019)
摘要
This survey confirmed the heterogeneity of alpha-mannosidosis and the large impact of the disease and treatment on patients, carers, and families. Early diagnosis and access to treatment offers the best chance of slowing the disease progression and may provide some relief to patients and carers.
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关键词
Alpha-mannosidosis,Lysosomal storage disorder,Haematopoietic stem cell transplantation,Velmanase alfa,Enzyme replacement therapy,Quality of life
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