Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 5 publications
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Journal: International journal of neonatal screening
Published: January 22, 2025
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: March 14, 2024
Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: September 10, 2021
Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
Journal: Epilepsy research
Published: July 29, 2021
Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
Journal: Experimental neurology
Published: March 17, 2020
Showing 1-5 of 5
Last Updated: 09/26/2026