Associated Papers
A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.
Mandl Š et al.
Protein Science : a Publication of the Protein Society, 2025
Digging out the Molecular Connections between the Catalytic Mechanism of Human Lysosomal α-Mannosidase and Its Pathophysiology.
Di Geronimo B et al.
Journal of Chemical Information and Modeling, 2025
Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
AlAnzi T et al.
Cureus, 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
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L et al.
Orphanet Journal of Rare Diseases, 2015
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