Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s12031-020-01643-3.pdf
Reference28 articles.
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2. Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB (2000) Variable onset of metachromatic leukodystrophy in a Vietnamese family. Pediatr Neurol 23:173–176
3. Biffi A, Capotondo A, Fasano S, Carro U, Marchesini S, Azuma H, Malaguti MC, Amadio S, Brambilla R, Grompe M, Bordignon C, Quattrini A, Naldini L (2006) Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J Clin Investig 116(11):3070–3082
4. Biffi A, Lucchini G, Rovelli A, Sessa M (2008) Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 42(Suppl 2):S2–S6
5. Bredius RG et al (2007) Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression. Bone Marrow Transplant 39(5):309–310
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1. Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants;Metabolic Brain Disease;2024-05-22
2. Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix;Genome Biology;2023-07-21
3. Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy;Frontiers in Neurology;2022-10-17
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