参考文献/References:
[1]Biffi A,Lucchini G,Rovelli A,et al.Metachromaticleukodystrophy:an overview of current and prospectivetreatments[J].Bone Marrow Transplantation,2008(42):S2-S6.[2]Shanice B,Stefan N,Boelens JJ,et al.Peripheral neuropathy in metachromatic leukodystrophy:current status and future perspective[J].Orphanet Journal of Rare Diseases,2019,14(3):805-816.[3]吴江,贾建平.神经病学[M].北京:人民卫生出版社,2015:287-288.[4]Jan MT,Marloes GD,Petra JW,et al.Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy[J].Annals of Clinical and TranslationalNeurology,2015,2(9):932-940.[5]Bergne C,Franziska VM,Winkler A,et al.Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy[J].Glia,2019(67):1196-1209.[6]Mcfadden K,Ranganathan S.Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy[J].Pediatric and Developmental Pathology,2015,18(3):228-230.[7]Thibert KA,Raymond GV,Tolar J,et al.Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy[J].Scientific Reports,2016(15):1038-1043.[8]Kolnikova1 M,Jungova P,Skopkova M,et al.Late Infantile Metachromatic Leukodystrophy Due to Novel PathogenicVariants in the PSAP Gene[J].Journal of Molecular Neuroscience,2019(67):559-563.[9]Cesani M,Lorioli L,Grossi S,et al.Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy[J].Human Mutation,2016,37(1):16-27.[10]Chen L,Huifang Y,Binbin C,et al.Identification of Novel ARSA Mutations in Chinese Patients withMetachromatic Leukodystrophy[J].International Journal of Genomics,2018(10):1155-1164.[11]Hirahara Y,Wakabayashi T,Mori T,et al.Sulfatide species with various fatty acid chains in oligodendrocytes at different developmental stages determined by imaging mass spectrometry[J].Neurochem,2017(140):435-450.[12]Pituch KC,Moyano AL,Lopez-Rosas A,et al.Dysfunction of platelet-derived growth factor receptor(PDGFRα)represses the production of oligodendrocytes from arylsulfatase Adeficient multipotential neural precursor cells[J].Biol Chem,2015(290):7040-7053.[13]Frati G,Luciani M,Meneghini V,et al.Human iPSC-based models highlightdefective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy[J].Cell Death and Disease,2018(9):698.[14]Raina A,Nair SS,Nagesh C,et al.Electroneurography and advanced neuroimaging profile in pediatric-onset metachromatic leukodystrophy[J].Pediatr Neurosci,2019,14(2):70-75. [15]Krivit W,Lipton ME,Lockman LA,et al.Prevention of deterioration in metachromatic leukodystrophy by bone marrow transplantation[J].American Journal of the Medical ences,1987,294(2):80-85.[16]Virgens MYF,Siebert M,Bock H,et al.Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy[J].Gene,2015,568(1):69-75.[17]Cesani M,Lorioli L,Grossi S,et al.Mutation update of ARSA and PSAP genes causing metachromatic Leukodystrophy[J].Hum Mutat,2016,37(1):16-27.[18]Elgün S,Waibel J,Kehrer C,et al.Phenotypicvariation between siblings withMetachromatic Leukodystrophy[J],Orphanet Journal of Rare Diseases,2019(14):136-145.[19]Saville JT,SmithN JC,Fletche JM,et al.Quantification of plasma sulfatides by mass spectrometry:utility for metachromatic leukodystrophy[J].Analytica Chimica Acta,2017(955):79-85.[20]潘志立.脑白质营养不良的影像学研究进展[J].中国医学影像技术,2009,25(12):2312-2314.[21]van Rappard DF,Boelens JJ,Wolf NI.Metachromatic leukodystrophy:Diseasespectrum and approaches for treatment[J].Best Practice&Research Clinical Endocrinology&Metabolism,2015(29):261-273.[22]vanRappard DF,Konigs M,Steenweg ME.et al.Diffusion tensor imaging in metachromatic leukodystrophy[J].Journal of Neurology,2018(265):659-668.[23]vanRappard DF,Boelens JJ,Martje E,et al.Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy:the Dutch experience[J].BLOOD,2016,127(24):3098-3101.[24]Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy:the largest single-institution cohort report[J].Orphanet Journal of Rare Diseases,2015,10(1):94.[25]koc ON,Day J,Nieder M,et al.HM Lazarus&W Krivit.Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy(MLD)and Hurler syndrome(MPS-IH)[J].Bone Marrow Transplantation,2002(30):215-222.[26]Hironaka K,Yamazaki Y,Hirai Y,et al.Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector[J].Scientific Reports,2015,23(7):1160-1168.[27]Biffi A,Aubourg P,Cartier N,et al.Gene therapy for leukodystrophies[J].Hum Mol Genet,2011,20(R1):R42-53.[28]Sessa M,Lorioli L,Fumagalli F,et al.Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy:an ad-hoc analysis of a non-randomised,open-label,phase 1/2 trial[J].Thelancet,2016(388):476-487.[29]李晓凤,张连城,潘婕.温扶阳气治疗异染性脑白质脱髓鞘疾病1例[J].山东中医杂志,2016,35(10):915.[30]方长水,盛长健,李静.中西医结合治疗异染性脑白质营养不良1例[J].河南中医,2016(7):926-927.