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Article

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Orphanet journal of rare diseases - 6 Jun 2015

Borgwardt Line, Stensland Hilde Monica Frostad Riise, Olsen Klaus Juul, Wibrand Flemming, Klenow Helle Bagterp, Beck Michael, Amraoui Yasmina, Arash Laila, Fogh Jens, Nilssen Øivind, Dali Christine I, Lund Allan Meldgaard

Abstract excerpt

BACKGROUND: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. METHODS: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted effect of the...

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PMID: 26048034
DOI: 10.1186/s13023-015-0286-x
PMCID: PMC4465300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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