Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-020-01734-1.pdf
Reference33 articles.
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2. Berná L, Gieselmann V, Poupetová H, Hrebícek M, Elleder M, Ledvinová J (2004) Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. Am J Med Genet A 129A(3):277–281
3. Biffi A, Lucchini G, Rovelli A, Sessa M (2008) Review Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 42(Suppl 2):S2-6
4. Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh -Mann I, Müller I, (2017) Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A deficient immortalized mesenchymal stromal cells. Hum Mutat 38(11):1511–1520
5. Cameron CL, Kang PB, Burns TM, Darras BT, Jones HR Jr (2004) Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve 29(4):531–536
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