Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 01/07/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1588 publications
Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.
Journal: Journal of child neurology
Published: December 03, 2025
CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation.
Journal: Annals of medicine and surgery (2012)
Published: September 29, 2025
Chorea in Hereditary Leukodystrophies - Overview of Two Cases.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: September 16, 2025
Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.
Journal: Case reports in psychiatry
Published: August 22, 2025
Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.
Journal: Pediatrics
Published: August 08, 2025
Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.
Journal: International journal of neonatal screening
Published: July 23, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Journal: Neurology
Published: June 27, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.
Journal: Journal of child neurology
Published: May 14, 2025
Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy.
Journal: The New England journal of medicine
Published: April 23, 2025
Encapsulated cells as an enzyme replacement therapy for metachromatic leukodystrophy.
Journal: Journal of controlled release : official journal of the Controlled Release Society
Published: April 14, 2025
Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine open
Published: April 02, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 31, 2025
Last Updated: 01/07/2026