Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy
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DOI: 10.1007/s12325-020-01574-w
Abstract: Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple… read more here.
Keywords: caregivers physicians; alpha mannosidosis; diagnosis; physicians perspectives ... See more keywords
Disease progression of alpha-mannosidosis and impact on patients and carers – A UK natural history survey
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100480
Abstract: 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… read more here.
Keywords: alpha mannosidosis; survey; disease progression; mannosidosis ... See more keywords