Sialuria Latest Advances
Find the Latest Research About Sialuria
Last Updated: 02/24/2026
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Found 366 publications
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Journal: Molecular genetics and metabolism reports
Published: August 13, 2025
The First Report of Putaminal Cysts in the Familial Series of Dystonia Associated with Salla Disease-the Phenotype Expanded.
Journal: Movement disorders clinical practice
Published: July 31, 2025
Sialic acid-Retaled disorders: Advances in pathophysiology, diagnostic challenges, and differentiating mimics.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 10, 2025
Disorders in sialic acid metabolism and sialylation pathway.
Journal: Life sciences
Published: June 18, 2025
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.
Journal: Molecular genetics and metabolism reports
Published: May 03, 2025
Improving the treatment of Pompe disease with enzyme replacement therapy: current strategies and clinical evidence.
Journal: Expert opinion on pharmacotherapy
Published: April 16, 2025
Expression of GNE mutant proteins increases CHO intracellular CMP-Neu5Ac levels without impact on bioprocess performance.
Journal: Bioprocess and biosystems engineering
Published: February 27, 2025
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.
Journal: Rare (Amsterdam, Netherlands)
Published: February 24, 2025
Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.
Journal: Parkinsonism & related disorders
Published: December 16, 2024
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease.
Journal: Biochemistry and biophysics reports
Published: December 03, 2024
Last Updated: 02/24/2026