Metachromatic Leukodystrophy Latest Advances

Find the Latest Research About Metachromatic Leukodystrophy

Last Updated: 04/28/2026

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Found 1596 publications

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

Journal: Journal of child neurology
Published: December 03, 2025

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency.

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency.

Journal: Cureus
Published: December 03, 2025

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.

Journal: NeuroImage. Clinical
Published: November 24, 2025

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation.

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.

Chorea in Hereditary Leukodystrophies - Overview of Two Cases.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: September 16, 2025

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review.

Journal: BMC pediatrics
Published: September 15, 2025

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.

Journal: Case reports in psychiatry
Published: August 22, 2025

A sulfatide-centered ultra-high-resolution magnetic resonance MALDI imaging benchmark dataset for MS1-based lipid annotation tools.

A sulfatide-centered ultra-high-resolution magnetic resonance MALDI imaging benchmark dataset for MS1-based lipid annotation tools.

Journal: GigaScience
Published: August 19, 2025

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Evidence Regarding Metachromatic Leukodystrophy Newborn Screening.

Journal: Pediatrics
Published: August 08, 2025

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Journal: International journal of neonatal screening
Published: July 23, 2025

Multiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.

Multiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.

Journal: AJNR. American journal of neuroradiology
Published: July 20, 2025

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Journal: Neurology
Published: June 27, 2025
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Last Updated: 04/28/2026