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Last Updated: 04/25/2025
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Found 644 publications
Digging out the Molecular Connections between the Catalytic Mechanism of Human Lysosomal α-Mannosidase and Its Pathophysiology.
Journal: Journal of chemical information and modeling
Published: February 20, 2025
MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis.
Journal: Expert reviews in molecular medicine
Published: December 04, 2024
Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
Journal: Molecular genetics and metabolism
Published: October 22, 2024
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.
Journal: JIMD reports
Published: October 08, 2024
α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
Journal: Orphanet journal of rare diseases
Published: June 20, 2024
A new view of missense mutations in α-mannosidosis using molecular dynamics conformational ensembles.
Journal: Protein science : a publication of the Protein Society
Published: June 17, 2024
Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.
Journal: Journal of inherited metabolic disease
Published: May 06, 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Journal: Frontiers in genetics
Published: April 23, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Journal: Molecular genetics and metabolism
Published: April 02, 2024
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: January 24, 2024
Last Updated: 04/25/2025