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Browsing Research Articles (Paediatrics and Child Health) by Author

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Browsing Research Articles (Paediatrics and Child Health) by Author "Adam, Jacqueline"

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Disease progression of alpha-mannosidosis and impact on patients and carers – a UK natural history survey

Adam, Jacqueline; Malone, Rachel; Lloyd, Sioned; Lee, Jennifer; Hendriksz, Christian J.; Ramaswami, Uma (Elsevier, 2019-09)

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 ...

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Browsing Research Articles (Paediatrics and Child Health) by Author "Adam, Jacqueline"

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