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参考文献
[1]何庭艳,杨军.Aicardi-Goutières综合征 [J].中国实用儿科杂志,2018,33(01):29-33
[2]张静,张月华.神经元蜡样质脂褐质沉积症分型和诊断[J].中国实用儿科杂志,2018,33(4):257-261
[3]卜姗姗,朱颖,肖江喜,等.苯丙酮尿症颅脑MRI表现[J].中国医学影像技术,2017,33(12):1802-1805
[4]郭妍,吴晓燕,熊伟,等.儿童铅中毒及防治的回顾与新进展[J].中国儿童保健杂志,2017,25(4):378-381
[5]朱红敏,刘智胜.急性坏死性脑病临床影像表现[J].中华儿科杂志,2017,55(11):865-868
[6]胡丽,吴德红,余刚,等.CT和MRI对脑桥中央髓鞘溶解症的诊断价值[J]. CT理论与应用研究,2016,25(2):227-233
[7]刘京,秦炯.儿童可逆性后部脑病综合征研究进展[J].中国当代儿科杂志,2016,18(8):787-790
[8]王爽,李典.Menkes病临床及实验室特点与基因诊断[J].中华实用儿科临床杂志,2016,31(10):787-791
[9]徐雁,王维治.视神经脊髓炎谱系疾病2015新诊断标准解读 [J].中华神经科杂志,2016,49(6):499-501
[10]杨坤芳,陈育才.儿童多发性硬化和其他中枢神经系统脱髓鞘疾病诊断标准共识(2012版)解读[J].中国当代儿科杂志,2016,18(12):1199-1204
[11]张全利,冀浩然,肖江喜,等.佩梅病的头颅MRI随访改变及与临床分型的关系[J].中国医学影像技术,2016,32(05):697-700
[12]中国免疫学会神经免疫学分会.中国视神经脊髓炎谱系疾病诊断与治疗指南[J].中国神经免疫学和神经病学杂志,2016,23(3):155-166
[13]中华医学会神经病学分会帕金森病及运动障碍学组.脑组织铁沉积神经变性病诊治专家共识[J].中华医学杂志,2016,96(27):2126-2133
[14]程双娟,杨海坡,肖江喜,等.中国人福山型先天性肌营养不良的MRI特征 [J].中华放射学杂志,2015,49(4):310-312
[15]Burgunder Jean-Marc,冯璐扬.亨廷顿舞蹈病:教学性综述 [J].中国神经精神疾病杂志,2015,41(10):577-591
[16]黄永兰,谢婷,郑纪鹏,等.青少年型Sandhoff病一例临床特点及基因分析[J].中华儿科杂志,2014,52(4):313-316
[17]季涛云,王静敏,李慧娟,等.Aicardi-Goutières综合征一家系并文献复习[J].中华儿科杂志,2014,52(11):822-827
[18]吴晔.儿童获得性白质脑病的诊断[J].中华实用儿科临床杂志,2014,29(18):1361-1362
[19]于磊,肖江喜,谢晟,等.MELAS患者MRI脑氧代谢成像初步研究[J].临床放射学杂志,2014,33(5):652-656
[20]赵丹华,王朝霞,于磊,等.线粒体脑肌病伴高乳酸血症和卒中样发作综合征患者的脑磁共振成像改变动态演变规律 [J].中华神经科杂志,2014,47(4):229-231
[21]程晓悦,肖江喜,袁新宇,等.Menkes病的MRI影像表现 [J].中华放射学杂志,2013,47(7):599-602
[22]胡建敏,张海华,肖江喜,等.儿童白质消融性脑白质病的MRI表现[J].中华放射学杂志,2013,47(10):908-911
[23]李冠慧,肖江喜,季涛云,等.儿童大脑后部可逆性脑病综合征的临床及头颅影像学特点[J].中华实用儿科临床杂志,2013,28(12):546-547
[24]刘玥,阴捷,彭芸,等.56例儿童甲基丙二酸血症的脑改变影像学特点[J].医学影像学杂志,2013,23(2):165-169
[25]陈翠云,徐俊玲,张继良,等.Fahr's病 CT 和 MRI诊断与鉴别诊断 [J].实用放射学杂志,2012,28(11):1797-1799
[26]黄琼辉,肖江喜,王静敏,等.一个伴脊髓与脑干受累以及脑白质乳酸升高的脑白质病家系临床及DARS2基因突变分析[J].中华儿科杂志,2012,50(1):50-55
[27]刘茜玮,黄勇,肖江喜,等.线粒体脑肌病伴高乳酸血症和卒中样发作氧摄取分数和脑血流的MRI随访研究[J].中华放射学杂志,2012,46(10):943-946
[28]刘岳峰,谢晟,赵彩蕾.儿童急性播散性脑脊髓炎的临床与影像学表现[J].中国医学影像技术,2012,28(8):1479-1482
[29]任晓暾,封志纯.神经元蜡样质脂褐质沉积症诊断策略和治疗进展 [J].中国实用儿科杂志,2012,27(2):153-156
[30]文宝红,程敬亮,张会霞.脑桥中央髓鞘溶解症MRI诊断(附 8例报告)[J].实用放射学杂志,2012,28(1):151-153
[31]肖江喜,赵彩蕾,谢晟,等.儿童急性播散性脑脊髓炎与临床孤立综合征的临床及影像学比较研究[J].临床放射学杂志,2012,31(3):412-416
[32]臧莉莉,吴晔,王静敏,等.亚历山大病12例中国患儿临床及遗传学研究[J].中华儿科杂志,2012,50(5):371-375
[33]方方,丁昌红,肖静,等.儿童Kearns-Sayre综合征8例临床分析[J].中国循证儿科杂志,2011,6(6):431-438
[34]杨嵘,谢晟,肖江喜,等.佩梅病的头颅MRI表现及其与临床、基因分型的关系[J].中华放射学杂志,2011,45(12):1171-1174
[35]赵彩蕾,谢晟,肖江喜,等.儿童多发性硬化的临床特点及MRI特征 [J].中华放射学杂志,2011,45(10):942-946
[36]曾洪武,干芸根,黄文献,等.儿童急性坏死性脑病临床及影像分析 [J].中华放射学杂志,2010,44(11):1209-1211
[37]郭雪梅,谢晟,肖江喜.伴皮层下囊肿的巨脑型脑白质病的MRI特点 [J].中国医学影像技术,2010,26(5):822-824
[38]刘茜玮,肖江喜,谢晟,等.MRI对先天性肌营养不良的诊断价值 [J].临床放射学杂志,2010,29(4):506-509
[39]杨洋,袁新宇,白凤森,等.伴有皮层下囊肿的巨脑性脑白质病二例[J].中华放射学杂志,2010,44(4):447-448
[40]虞雄鹰,钟建民,吴华平.Cockayne综合征1例[J].实用儿科临床杂志,2010,25(02):153-154
[41]王静敏,姜玉武.伴皮质下囊肿的巨脑性白质脑病[J].中国实用儿科杂志,2009,24(7):514-516
[42]吴晔.白质消融性白质脑病[J].中国实用儿科杂志,2009,24(7):510-513
[43]许蕾,刘瑞春,朱一飞,等.Kearns—Sayre综合征一例临床病理分析[J].脑与神经疾病杂志,2009,17(5):379-382
[44]郭丽,谢晟,肖江喜,等.SURF-1基因604G→C突变所致Leigh综合征的MRI表现[J].中华放射学杂志,2008,42(12):1246-1248
[45]罗昭阳,朱文珍,夏黎明.黏多糖贮积症的颅脑CT及MRI表现 [J].放射学实践,2008,23(1):13-16
[46]马秀伟,蒲利华,张月华,等.GM2神经节苷脂沉积症的临床特征及诊断[J].中华实用儿科临床杂志,2008,23(7):539-541
[47]肖江喜,齐朝月,杨艳玲,等.Leigh综合征的氢质子磁共振波谱研究[J].临床放射学杂志,2008,27(12):1632-1635
[48]谢晟,齐朝月,肖江喜,等.MELAS综合征患者脑灌注异常的MRI特征[J].中华放射学杂志,2008,42(5):471-473
[49]杨学东,郭雪梅,谢晟,等.MRI诊断Canavan病一例[J].中华放射学杂志,2008,42(10):1116
[50]谢晟,齐朝月,肖江喜,等.MRI评价亚急性硬化性脑脊髓病患儿的脑灌注特点[J].中华放射学杂志,2007,41(6):629-632
[51]张尧,孙芳,杨艳玲,等.丙酮酸脱氢酶E1α亚单位缺陷导致Leigh综合征 [J].中国当代儿科杂志,2007,9(3):216-219
[52]李素荣,袁新宇,朱彦丽,等.儿童甲基丙二酸血症颅脑常规MRI影像分析[J].临床放射学杂志,2006,25(12):1143-1146
[53]刘红光,卢明花,王其军,等.Fahr病影像学诊断及病理学分析 [J].中华放射学杂志,2006,40(5):474-478
[54]齐朝月,张尧,张为民,等.婴儿型GM1神经节苷脂沉积病5例临床及影像学分析[J].临床儿科杂志,2006,24(12):966-969
[55]肖江喜,范晓颖,郭雪梅,等.儿童型肾上腺脑白质营养不良的2D-~1HMRSI和DTI初步应用[J].实用放射学杂志,2005,21(05):454-458
[56]熊晖,袁云,吴希如.先天性肌营养不良的研究进展[J].中华儿科杂志,2005,43(12):958-961
[57]吴晔,赵晖,姜玉武,等.儿童MELAS综合征临床及分子遗传学特点分析[J].中国实用儿科杂志,2004,19(7):403-405
[58]肖江喜,高莉,周元春,等.儿童神经元蜡样质脂褐素增多病的 MRI诊断[J].中华放射学杂志,2003,37(9):802-804
[59]王朝霞,袁云,高枫,等.慢性进行性眼外肌瘫痪和Kearns-Sayre综合征的线粒体DNA突变分析[J].中华医学遗传学杂志,2003,20(4):273-278
[60]肖江喜,杨开颜,王霄英,等.儿童异染性脑白质营养不良的 MRI表现 [J].中华放射学杂志,2001,35(10):747-750
[61]张月华,胡家胜,熊晖.CANAVAN病一例[J].中华儿科杂志,2000,38(8):518.
[62]Razmeh S,Habibi A H,Orooji M,et al. Pantothenate kinase-associated neurodegeneration:Clinical aspects,diagnosis and treatments[J]. Neurol Int,2018,10(1):7516
[63]Stapleton M,Arunkumar N,Kubaski F,et al. Clinical presentation and diagnosis of mucopolysaccharidoses[J].Mol Genet Metab,2018,125(1-2):4-17
[64]Kitzing Y X,Whitley S A,Upponi S S,et al. Association between progressive hepatic morphology changes on serial MRI imaging and clinical outcome in primary sclerosing cholangitis[J]. J Med Imaging Radiat Oncol,2017,61(5):636-642
[65]Manara R,D’Agata L,Rocco M C,et al. Neuroimaging Changes in Menkes Disease,Part 1[J]. AJNR Am J Neuroradiol,2017,38(10):1850-1857
[66]Manara R,Rocco M C,D’Agata L,et al. Neuroimaging Changes in Menkes Disease,Part 2[J]. AJNR Am J Neuroradiol,2017,38(10):1858-1865
[67]Thompson AJ,Banwell BL,Barkhof F,et al. Diagnosis of multiple sclerosis:2017 revisions of the McDonald criteria[J]. Lancet Neurology,2017,17(2):162-173
[68]Habetz K,Ramakrishnaiah R,Raina S K,et al. Posterior Reversible Encephalopathy Syndrome:A Comparative Study of Pediatric Versus Adult Patients[J]. Pediatric Neurology,2016,65:45-51
[69]La Piana R,Uggetti C,Roncarolo F,et al. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutieres syndrome[J]. Neurology,2016,86(1):28-35
[70]Nita D A,Mole S E,Minassian B A. Neuronal ceroid lipofuscinoses[J]. Epileptic Disord,2016,18(S2):73-88
[71]Rolle A M,Hasenberg M,Thornton C R,et al. ImmunoPET/MRI imaging allows specific detection of Aspergillus fumigatus lung infection in vivo[J]. Proc Natl Acad Sci U S A,2016,113(8):E1026-E1033
[72]Sumida K,Inoue K,Takanashi J,et al. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease:A multicenter study of 19 patients[J]. Brain Dev,2016,38(6):571-580
[73]Bates G P,Dorsey R,Gusella J F,et al. Huntington disease[J].Nat Rev Dis Primers,2015,1:15005
[74]Fugate J E,Rabinstein A A. Posterior reversible encephalopathy syndrome:clinical and radiological manifestations,pathophysiology,and outstanding questions[J]. Lancet Neurology,2015,14(9):914-925
[75]Ralovich K,Itu L,Vitanovski D,et al. Noninvasive hemodynamic assessment,treatment outcome prediction and follow-up of aortic coarctation from MRI imaging[J]. Med Phys,2015,42(5):2143-2156
[76]Simon B,Oommen S P,Shah K,et al. Cockayne syndrome:characteristic neuroimaging features[J]. Acta Neurol Belg,2015,115(3):427-428
[77]Singh T D,Fugate J E,Rabinstein A A. Central pontine and extrapontine myelinolysis:a systematic review[J]. European Journal of Neurology,2015,21(12):1443-1450
[78]Wingerchuk D M,Banwell B,Bennett J L,et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders[J]. Neurology,2015,85(2):177-189
[79]Wu X,Wu W,Pan W,et al. Acute necrotizing encephalopathy:an underrecognized clinicoradiologic disorder[J].Mediators Inflamm,2015,2015:792578.
[80]Bosemani T,Meoded A,Poretti A. Susceptibility-weighted imaging in pantothenate kinase-associated neurodegeneration[J]. J Pediatr,2014,164(1):212
[81]Cimaz R,La Torre F. Mucopolysaccharidoses[J]. Curr Rheumatol Rep,2014,16(1):389
[82]Drzezga A,Barthel H,Minoshima S,et al. Potential Clinical Applications of PET/MRI Imaging in Neurodegenerative Diseases[J]. J Nucl Med,2014,55(Suppl. 2):47S-55S
[83]Khambatta S,Nguyen D L,Beckman T J,et al. Kearns-Sayre syndrome:a case series of 35 adults and children[J].International Journal of General Medicine,2014,7(default):325-332
[84]Rao J V,Vengamma B,Naveen T,et al. Lead encephalopathy in adults[J]. J Neurosci Rural Pract,2014,5(2):161-163
[85]Ross C A,Aylward E H,Wild E J,et al. Huntington disease:natural history,biomarkers and prospects for therapeutics[J].Nat Rev Neurol,2014,10(4):204-216
[86]Waldman A,Ghezzi A,Baror A,et al. Multiple sclerosis in children:an update on clinical diagnosis,therapeutic strategies,and research[J]. Lancet Neurology,2014,13(9):936-948
[87]Bekiesinska-Figatowska M,Mierzewska H,Jurkiewicz E. Basal ganglia lesions in children and adults[J]. Eur J Radiol,2013,82(5):837-849
[88]Jain P,Sharma S,Sankhyan N,et al. Imaging in neonatal maple syrup urine disease[J]. Indian J Pediatr,2013,80(1):87-88
[89]Krupp L B,Tardieu M,Amato M P,et al. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders:revisions to the 2007 definitions[J]. Mult Scler,2013,19(10):1261-1267
[90]Nozaki F,Kumada T,Miyajima T,et al. Reversible splenic lesion in a patient with febrile infection-related epilepsy syndrome(FIRES)[J]. Neuropediatrics,2013,44(5):291-294
[91]Patil M,Sheth K A,Krishnamurthy A C,et al. A review and current perspective on Wilson disease[J]. J Clin Exp Hepatol,2013,3(4):321-336
[92]Vieira J P,Conceicao C,Scortenschi E. GM1 gangliosidosis,late infantile onset dystonia,and T 2 Hypointensity in the globus pallidus and substantia Nigra[J]. Pediatr Neurol,2013,49(3):195-197
[93]Yu L,Xie S,Xiao J,et al. Quantitative measurement of cerebral oxygen extraction fraction using MRI in patients with MELAS[J]. PLoS One,2013,8(11):e79859
[94]Liver E A F S. EASL Clinical Practice Guidelines:Wilson's disease[J]. J Hepatol,2012,56(3):671-685
[95]Ranger A M,Chaudhary N,Avery M,et al. Central Pontine and Extrapontine Myelinolysis in Children:A Review of 76 Patients[J]. Journal of Child Neurology,2012,27(8):1027-1037
[96]Samsonov A,Alexander A L,Mossahebi P,et al. Quantitative MRI imaging of two-pool magnetization transfer model parameters in myelin mutant shaking pup[J].Neuroimage,2012,62(3):1390-1398
[97]Schreiber J,Chapman K A,Summar M L,et al. Neurologic considerations in propionic acidemia[J]. Molecular Genetics & Metabolism,2012,105(1):10-15
[98]Steenweg M E,van Berge L,van Berkel C G,et al. Earlyonset LBSL:how severe does it get?[J]. Neuropediatrics,2012,43(6):332-338
[99]Wang Z,Xiao J,Xie S,et al. MRI evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS[J]. J Neurol Sci,2012,323(1-2):173-177
[100]Wang Z,Xiao J,Xie S,et al. MRI evaluation of cerebral oxygen metabolism and blood flow in stroke-like episodes of MELAS[J]. J Neurol Sci,2012,323(1-2):173-177
[101]Bley A E,Giannikopoulos O A,Hayden D,et al. Natural history of infantile G(M2)gangliosidosis[J]. Pediatrics,2011,128(5):e1233-e1241
[102]Mcevoy L K,Holland D,Hagler D J,et al. Mild cognitive impairment:baseline and longitudinal structural MRI imaging measures improve predictive prognosis[J]. Radiology,2011,259(3):834-843
[103]Singh P,Ahluwalia A,Saggar K,et al. Wilson's disease:MRI features[J]. J Pediatr Neurosci,2011,6(1):27-28
[104]Bugiani M,Boor I,Powers J M,et al. Leukoencephalopathy with vanishing white matter:a review[J]. J Neuropathol Exp Neurol,2010,69(10):987-996
[105]Koob M,Laugel V,Durand M,et al. Neuroimaging in Cockayne syndrome[J]. AJNR Am J Neuroradiol,2010,31(9):1623-1630
[106]Piao Y S,Tang G C,Yang H,et al. Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome[J]. Neuropathology,2010,26(3):218-221
[107]Piao Y S,Tang G C,Yang H,et al. Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome[J]. Neuropathology,2010,26(3):218-221
[108]De Grandis E,Di Rocco M,Pessagno A,et al. MRI imaging findings in 2 cases of late infantile GM1 gangliosidosis[J].AJNR Am J Neuroradiol,2009,30(7):1325-1327
[109]Pastores G M. Krabbe disease:an overview[J]. Int J Clin Pharmacol Ther,2009,47(Suppl 1):S75-S81
[110]van der Voorn J P,Pouwels P J,Salomons G S,et al. Unraveling pathology in juvenile Alexander disease:serial quantitative MRI imaging and spectroscopy of white matter[J]. Neuroradiology,2009,51(10):669-675
[111]Farina L,Pareyson D,Minati L,et al. Can MRI imaging diagnose adult-onset Alexander disease?[J]. AJNR Am J Neuroradiol,2008,29(6):1190-1196
[112]Vazquez E,Macaya A,Mayolas N,et al. Neonatal Alexander disease:MRI imaging prenatal diagnosis[J]. AJNR Am J Neuroradiol,2008,29(10):1973-1975
[113]Ala A,Walker A P,Ashkan K,et al. Wilson's disease[J].Lancet,2007,369(9559):397-408
[114]Scheper G C,van der Klok T,van Andel R J,et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation[J]. Nat Genet,2007,39(4):534-539
[115]Erol I,Alehan F,Pourbagher M A,et al. Neuroimaging findings in infantile GM1 gangliosidosis[J]. Eur J Paediatr Neurol,2006,10(5-6):245-248
[116]Maegawa G H,Stockley T,Tropak M,et al. The natural history of juvenile or subacute GM2 gangliosidosis:21 new cases and literature review of 134 previously reported[J].Pediatrics,2006,118(5):e1550-e1562
[117]Knaap M S,Pronk J C,Scheper G C. Vanishing white matter disease[J]. Lancet Neurol,2006,5(5):413-423
[118]Kim J H,Kim H J. Childhood X-linked adrenoleukodystrophy:clinical-pathologic overview and MRI imaging manifestations at initial evaluation and follow-up[J].Radiographics,2005,25(3):619-631
[119]Kurihara A,Takanashi J I,Tomita M,et al. Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency[J]. Brain & Development,2003,25(1):40-44
[120]Sener R N. Pantothenate kinase-associated neurodegeneration:MRI imaging,proton MRI spectroscopy,and diffusion MRI imaging findings[J]. AJNR Am J Neuroradiol,2003,24(8):1690-1693
[121]van der Knaap M S,van der Voorn P,Barkhof F,et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate[J]. Ann Neurol,2003,53(2):252-258
[122]Marcos H B,Libutti S K,Alexander H R,et al. Neuroendocrine tumors of the pancreas in von Hippel-Lindau disease:spectrum of appearances at CT and MRI imaging with histopathologic comparison[J]. Radiology,2002,225(3):751-758
[123]Tuzun M,Tuzun D,Salan A,et al. Lead encephalopathy:CT and MRI findings[J]. J Comput Assist Tomogr,2002,26(3):479-481
[124]Knaap M S,Naidu S,Breiter S N,et al. Alexander disease:diagnosis with MRI imaging[J]. AJNR Am J Neuroradiol,2001,22(3):541-552
[125]Loes D J,Peters C,Krivit W. Globoid cell leukodystrophy:distinguishing early-onset from late-onset disease using a brain MRI imaging scoring method[J]. AJNR Am J Neuroradiol,1999,20(2):316-323
[126]Brismar J,Ozand P. CT and MRI of the brain in glutaric acidemia type I:a review of 59 published cases and a report of 5 new patients[J]. Ajnr American Journal of Neuroradiology,1995,16(4):675-683