Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Discover the latest research on metachromatic leukodystrophy here.

December 10, 2021

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.

The CRISPR Journal
Justin S AntonyMarkus Mezger
December 6, 2021
Open Access

Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review.

Frontiers in Molecular Biosciences
Daniela VuoloVânia D'Almeida
November 11, 2021

Lighthouse in the open sea of spastic ataxia.

Parkinsonism & Related Disorders
Orlando Barsottini
October 26, 2021
Open Access

Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.

Frontiers in Molecular Neuroscience
Thomas Leth JensenDavid P D Woldbye
October 16, 2021
Open Access

Formation of multinucleated globoid cells in Krabbe iPSC-derived microglia cultures: a preliminary investigation

BioRxiv : the Preprint Server for Biology
Richard LiebermanR. H. Barker
October 8, 2021

Newborn screening of neuromuscular diseases.

Neuromuscular Disorders : NMD
Tamara DangouloffLaurent Servais
September 26, 2021

Sulfatide in health and disease. The evaluation of sulfatide in cerebrospinal fluid as a possible biomarker for neurodegeneration.

Molecular and Cellular Neurosciences
Maria BlomqvistJan-Eric Månsson
September 23, 2021

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Journal of Molecular Neuroscience : MN
Rezvan AbtahiMassoud Houshmand
September 18, 2021
Comment / Editorial

Author Response: Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy.

Samuel Groeschel, Ingeborg Krägeloh-Mann
September 18, 2021
Comment / Editorial

Reader Response: Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy.

Mackenzie A Michell-Robinson, Sarah Lépine
September 17, 2021

Evaluating the role of ARSA in Chinese patients with Parkinson's disease.

Neurobiology of Aging
Hong-Xu PanJi-Feng Guo
September 4, 2021

Hybrid Nanoparticles as a Novel Tool for Regulating Psychosine-Induced Neuroinflammation and Demyelination In Vitro and Ex vivo.

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Adryana ClementinoKumlesh K Dev
September 3, 2021

Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.

Molecular Genetics and Metabolism
Justin Mak, Tina M Cowan
August 16, 2021

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.

Brain : a Journal of Neurology
Shanice BeerepootNicole I Wolf
August 11, 2021

Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.

The Journal of Biological Chemistry
Claudia YaghootfamUlrich Matzner
August 3, 2021
Open Access

Epidemiology and Genotyping of Patients with Lysosomal Storage Disease in Malaysia.

Affandi OmarJulaina Abdul Jalil

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