Associated Papers
Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.
Yao F et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2026
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.
Nurse JH et al.
Genetics in Medicine Open, 2025
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Köse E et al.
European Journal of Medical Genetics, 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.
Park JE et al.
Frontiers in Genetics, 2023
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R et al.
Plos One, 2021
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S et al.
Frontiers in Bioscience (landmark Edition), 2017
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L et al.
Orphanet Journal of Rare Diseases, 2015
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
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