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
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Urizar E et al.
Genes, 2025
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R et al.
Journal of Inherited Metabolic Disease, 2025
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
Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
Kubaski F et al.
Molecular Genetics and Metabolism, 2025
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
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
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.
Danielsen ER et al.
Jimd Reports, 2013
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
Khan JM et al.
Bmc Genomics, 2009
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
Hansen G et al.
The Biochemical Journal, 2004
Spectrum of mutations in alpha-mannosidosis.
Berg T et al.
American Journal of Human Genetics, 1999