Associated Papers
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R et al.
Journal of Inherited Metabolic Disease, 2025
Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
Köse E et al.
European Journal of Medical Genetics, 2024
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
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
Kuokkanen E et al.
Human Molecular Genetics, 2011
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