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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.

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.

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.

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.

Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.

Journal: JIMD reports
Published: October 08, 2024

Lysosomal storage diseases.

Lysosomal storage diseases.

Journal: Handbook of clinical neurology
Published: September 25, 2024

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

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.

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.

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

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.

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.

Journal: Cureus
Published: April 24, 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

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.

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).

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
Showing 1-12 of 644

Last Updated: 04/25/2025