Last Updated: 09/26/2026
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Found 41 publications
Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease.
Journal: iScience
Published: August 29, 2025
Spatial and temporal brain biodistribution of neuropathogenic sphingolipids of Krabbe disease.
Journal: Journal of lipid research
Published: May 07, 2025
Central Nervous System-Targeted Gene Therapy for the Treatment of Neurocognitive Deficits in Mucopolysaccharidosis Type II Mice.
Journal: Human gene therapy
Published: February 27, 2025
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Journal: JAMA network open
Published: May 13, 2024
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.
Journal: Human mutation
Published: November 09, 2023
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
Journal: Journal of inherited metabolic disease
Published: August 27, 2023
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2023
USP8 inhibition regulates autophagy flux and controls Salmonella infection.
Journal: Frontiers in cellular and infection microbiology
Published: October 14, 2022
Fluorescent Labeling of Small Extracellular Vesicles (EVs) Isolated from Conditioned Media.
Journal: Bio-protocol
Published: February 01, 2022
Last Updated: 09/26/2026