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46 Chapter 2 16. Groeschel S, Dali C, Clas P, Bohringer J, DunoM, Krarup C, et al. Cerebral gray andwhitematter changes and clinical course in metachromatic leukodystrophy. Neurology 2012;79:1662- 1670. 17. Kingsley PB, Shah TC, Woldenberg R. Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy. NMR Biomed 2006;19:435-462. 18. Assadi M, Wang DJ, Velazquez-Rodriquez Y, Leone P. Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy. J Cent Nerv Syst Dis 2013;5:25-30. 19. Luzi P, Rafi MA, Rao HZ, Wenger DA. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene 2013;530:323-328. 20. Morana G, Biancheri R, Dirocco M, Filocamo M, Marazzi MG, Pessagno A, et al. Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. Neuropediatrics 2009;40:291-294. 21. MartinHR,PoeMD,ProvenzaleJM,KurtzbergJ,MendizabalA,EscolarML.Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy. Biol Blood Marrow Transplant 2013;19:616-624. 22. Bredius RG, Laan LA, Lankester AC, Poorthuis BJ, van Tol MJ, Egeler RM, et al. Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression. Bone Marrow Transplant 2007;39:309- 310. 23. Meuleman N, Vanhaelen G, Tondreau T, Lewalle P, Kwan J, Bennani J, et al. Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008;93:e11-e13. 24. Batzios SP, Zafeiriou DI. Developing treatment options for metachromatic leukodystrophy. Mol Genet Metab 2012;105:56-63. 25. Solders M, Martin DA, Andersson C, Remberger M, Andersson T, Ringden O, et al. Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy. BoneMarrow Transplant 2014; 49:1046-1051. 26. van Egmond ME, Pouwels PJ, Boelens JJ, Lindemans CA, Barkhof F, Steenwijk MD, et al. Improvement of whitematter changes on neuroimagingmodalities after stemcell transplant in metachromatic leukodystrophy. JAMA Neuro l 2013;70:779-782. 27. Ding XQ, Bley A, Kohlschutter A, Fiehler J, Lanfermann H. Long-termneuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: evidence of myelin recovery and ongoing brain maturation . Am J Med Genet A 2012;158A:257-60. 28. Krageloh-Mann I, Groeschel S, Kehrer C, Opherk K, Nagele T, Handgretinger R, et al. Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. Bone Marrow Transplant 2013;48:369-375.