Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 37 publications
Letter: Exon 19 of the GNPTAB Gene is Indispensable for the Catalytic Activity of the Enzyme.
Journal: Human gene therapy
Published: July 10, 2026
Validating a Human Cell Model of Null Galactosylceramidase (GALC) Enzyme Activity That Recapitulates Krabbe Disease.
Journal: Journal of inherited metabolic disease
Published: January 19, 2026
Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.
Journal: The Journal of clinical investigation
Published: August 28, 2025
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.
Journal: Human molecular genetics
Published: June 09, 2025
Recombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology.
Journal: PloS one
Published: March 03, 2025
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Journal: Science translational medicine
Published: January 15, 2025
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
Journal: JCI insight
Published: July 11, 2024
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
Journal: bioRxiv : the preprint server for biology
Published: April 08, 2024
Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I mice.
Journal: Molecular therapy. Methods & clinical development
Published: February 28, 2024
Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I.
Journal: Molecular genetics and metabolism reports
Published: December 05, 2023
Last Updated: 09/26/2026