Alpha Mannosidosis Latest Advances

Find the Latest Research About Alpha Mannosidosis

Last Updated: 04/28/2026

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Found 657 publications

Alpha-mannosidosis

Alpha-mannosidosis

Journal: MMW Fortschritte der Medizin
Published: February 16, 2026

Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.

Exemplifying a measurement validation strategy for rare- and ultra-rare diseases: measuring what matters in alpha-mannosidosis.

Journal: Orphanet journal of rare diseases
Published: December 03, 2025

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Journal: Frontiers in endocrinology
Published: November 07, 2025

Correction to "Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis".

Correction to "Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis".

Journal: Journal of inherited metabolic disease
Published: October 07, 2025

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.

Journal: Molecular genetics and metabolism reports
Published: October 05, 2025

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: October 02, 2025

Correction to "Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis".

Correction to "Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis".

Journal: Journal of inherited metabolic disease
Published: July 16, 2025

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025

Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease.

Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease.

Journal: Molecular therapy. Methods & clinical development
Published: March 28, 2025

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Journal: Genetics in medicine open
Published: February 26, 2025

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

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease
Published: February 14, 2025
Showing 1-12 of 657

Last Updated: 04/28/2026