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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...

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Detalles Bibliográficos
Autores principales:	Adam, Jacqueline, Malone, Rachel, Lloyd, Sioned, Lee, Jennifer, Hendriksz, Christian J., Ramaswami, Uma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Research Paper
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

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