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45 Metachromatic leukodystrophy: disease spectrum and approaches for treatment 2 REFERENCES 1. Biffi A, Lucchini G, Rovelli A, Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant 2008;42 Suppl 2:S2-S6. 2. Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy . Drug Des Devel The r 2013;7:729-45. 3. Eckhardt M. The role and metabolism of sulfatide in the nervous system. Mol Neurobiol 2008;37:93-103. 4. Diez-Roux G, Ballabio A. Sulfatases and human disease. Annu Rev Genomics Hum Genet 2005;6:355-379. 5. Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics 2001;32:38-40. 6. Matthes F, Stroobants S, Gerlach D, Wohlenberg C, Wessig C, Fogh J, et al. Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age. HumMol Genet 2012;21:2599-2609. 7. Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis 2007;30:175-83. 8. Gieselmann V. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Supp l 2008;97:15-21. 9. Gieselmann V, Krageloh-Mann I. Metachromatic leukodystrophy--an update. Neuropediatrics 2010;41;1-6. 10. Kehrer C, Groeschel S, Kustermann-Kuhn B, Burger F, KohlerW, Kohlschutter A, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis 2014;9:18. 11. Agarwal A, Shipman PJ. Gallbladder polyposis in metachromatic leukodystrophy. Pediatr Radiol 2013;43:631-633. 12. Yavuz H, Yuksekkaya HA. Intestinal involvement in metachromatic leukodystrophy. J Child Neur ol 2011;26:117-120. 13. Martin A, Sevin C, Lazarus C, Bellesme C, Aubourg P, Adamsbaum C. Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution. Am J Neuroradiol 2012;33:1731-1739. 14. Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, et al. Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. Am J Neuroradiol 2009;30:1893-1897. 15. van der Voorn JP, Pouwels PJ, Kamphorst W, Powers JM, Lammens M, Barkhof F, et al. Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. Am J Neuroradio l 2005;26:442-446.

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