Lysosomal leukodystrophies
Author:
Publisher
Elsevier
Reference35 articles.
1. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?;Baumann;J Physiol Paris,2002
2. Early marrow transplantation in a pre-symptomatic neonate with late-infantile metachromatic leukodystrophy does not halt disease progression;Bredius;Bone Marrow Transplant,2007
3. Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy;Brown;Neurology,1981
4. Diagnosis of Krabbe disease by use of a natural substrate;Callahan;Methods Mol Biol,2006
5. Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy;Cartier;Curr Opin Mol Ther,2008
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1. Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs);Neurology International;2023-09-11
2. Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy;NeuroMolecular Medicine;2023-09-08
3. Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease;Brain and Development;2023-08
4. Brain Targeted AAV1-GALC Gene Therapy Reduces Psychosine and Extends Lifespan in a Mouse Model of Krabbe Disease;Genes;2023-07-25
5. Altered plasma membrane abundance of the sulfatide-binding protein NF155 links glycosphingolipid imbalances to demyelination;Proceedings of the National Academy of Sciences;2023-03-30
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