Caregivers’ and Physicians’ Perspectives on Alpha-Mannosidosis: A Report from Italy
Sign Up to like & getrecommendations! Published in 2020 at "Advances in Therapy"
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
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.05.016
Abstract: Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much attention due… read more here.
Keywords: fucosidosis; mannosidosis fucosidosis; mass spectrometry; mannosidosis ... 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