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α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.

Molecular genetics and metabolism - 1 Jun 2020

Wiesinger Thomas, Schwarz Markus, Mechtler Thomas P, Liebmann-Reindl Sandra, Streubel Berthold, Kasper David C

Abstract excerpt

Individuals affected by alpha-Mannosidosis suffer from similar clinical symptoms such as respiratory infections, skeletal changes as patients with mucopolysaccharidoses (MPS). α-Mannosidosis is considered as an ultra-rare disorders and also diagnostic testing is often limited. With the availability of novel therapies and easy-to-access diagnostic tests (e.g. Tandem mass spectrometry) using dried blood spots for...

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PMID: 32331969
DOI: 10.1016/j.ymgme.2020.04.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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