Associated Papers
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
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Bertolini A et al.
Clinical Dysmorphology, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Sbaragli M et al.
Human Mutation, 2005
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