Metachromatic Leukodystrophy Latest Advances

Find the Latest Research About Metachromatic Leukodystrophy

Last Updated: 06/30/2026

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Found 1600 publications

Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy Added to the Newborn Screening Program.

Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy Added to the Newborn Screening Program.

Journal: MCN. The American journal of maternal child nursing
Published: June 24, 2026

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

Journal: medRxiv : the preprint server for health sciences
Published: June 05, 2026

Reactions, Adaptation, and Support Needs of Siblings of Children with a Life-Limiting Disease: The Parents' Experiences.

Reactions, Adaptation, and Support Needs of Siblings of Children with a Life-Limiting Disease: The Parents' Experiences.

Journal: Children (Basel, Switzerland)
Published: April 08, 2026

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: February 26, 2026

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
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Last Updated: 06/30/2026