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