Last Updated: 09/26/2026
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Found 72 publications
Risk of Seizures and Epilepsy in the Leukodystrophies.
Journal: Pediatric neurology
Published: August 18, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Journal: Epilepsia
Published: December 03, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Journal: Molecular genetics and metabolism
Published: March 19, 2024
Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.
Journal: Annals of clinical and translational neurology
Published: October 17, 2023
Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: September 19, 2023
Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.
Journal: Orphanet journal of rare diseases
Published: January 11, 2023
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Journal: Molecular therapy. Methods & clinical development
Published: October 03, 2022
β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.
Journal: International journal of molecular sciences
Published: July 27, 2022
Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation.
Journal: Frontiers in molecular neuroscience
Published: March 02, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Journal: Frontiers in genetics
Published: February 01, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Journal: European journal of human genetics : EJHG
Published: December 27, 2021
Last Updated: 09/26/2026