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Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey
INTRODUCTION: Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large variations in symptom severity and disease progression rates. Quantitative and...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557729/ https://www.ncbi.nlm.nih.gov/pubmed/31198684 http://dx.doi.org/10.1016/j.ymgmr.2019.100480 |