Sialic Acid Storage Disease Latest Advances
Find the Latest Research About Sialic Acid Storage Disease
Last Updated: 06/30/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 330 publications
Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.
Journal: Advances in experimental medicine and biology
Published: March 31, 2026
Hippocampus undergoes transcriptomic changes and synaptic alterations in a Slc17a5 heterozygous mouse model with working memory deficit.
Journal: Neuroscience
Published: December 18, 2025
Rodent models with neuraminidase deficiencies.
Journal: Archives of biochemistry and biophysics
Published: November 22, 2025
Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.
Journal: Experimental neurology
Published: November 05, 2025
Enzyme replacement therapy for CLN1 batten disease that crosses the blood-brain-barrier.
Journal: Molecular genetics and metabolism
Published: October 02, 2025
A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degeneration.
Journal: Disease models & mechanisms
Published: September 08, 2025
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Journal: Journal of inherited metabolic disease
Published: August 26, 2025
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
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
Last Updated: 06/30/2026