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中国法布里病(Fabry病)诊治专家共识作者：中国法布里病专家协作组作者单位：刊名：中华医学杂志英文刊名：NationalMedicalJournalofChina年，卷(期)：2013,93(4)被引用次数：13次参考文献(36条)1.DesnickRJ;loannouYA;EngCMAlphagalactosidaseAdeficiency:Fabrydisease20012.GermainDPFabrydisease20103.Ashton-ProllaP;TongB;ShabbeerJFabrydisease:twenty-twonovelmutationsinthealpha-galactosidaseAgeneandgenotype/phenotypecorrelationsinseverelyandmildlyaffectedhemizygotesandheterozygotes20004.ShabbeerJ;YasudaM;BensonSDFabrydisease:identificationof50novelalpha-galactosidaseAmutationscausingtheclassicphenotypeandthree-dimensionalstructuralanalysisof29missensemutations20065.陈佳韵,王朝晖,潘晓霞,王伟铭,任红,陈晓农,巫永睿,陆颖,陈楠Fabry病家系的α-半乳糖苷酶A基因突变研究[期刊论文]-中华肾脏病杂志2005(11)6.刘和俊,曹克将,李诚让,戴健,马继政,雍永宏,孙伟肥厚型心肌病样临床表现的Fabry病家系研究[期刊论文]-中华心血管病杂志2006(2)7.陈佳韵,潘晓霞,吕轶伦,王朝晖,王伟铭,任红,张文,翁崎峻,陈楠11个Fabry病家系的α-半乳糖苷酶A活性及GLA基因检测[期刊论文]-中华肾脏病杂志2007(5)8.ZhangSH;LiuZH;ZengCHFabrydisease:renalbiopsyprovencasesfromChina20079.孟岩,张为民,施惠平,魏珉,黄尚志16例经典型Fabry病患者的临床表现和基因突变分析[期刊论文]-中华医学杂志2010(8)10.LvYL;WangWM;PanXXAsuccessfulscreeningforFabrydiseaseinaChinesedialysispatientpopulation200911.刘晓曼,安丰双,张运,张澄,安贵鹏,颜墨磊,杨兴胜,王荣PCR-SSCP技术在AndersonFabry病诊断中的应用[期刊论文]-山东大学学报（医学版）2006(10)12.MacDermorKD;HolnesA;MinersAHAndersonFabrydisease:clinicalmanifestationsandimpactofdiseaseinacohortof98hemizygousmales200113.张巍,袁云,杨艳玲,秦炯,吴希如,陈清棠Fabry病二例患者的血管病变[期刊论文]-中华神经科杂志2003(1)14.张苏华,刘志红,李世军,陈惠萍,苏健,曾彩虹,黎磊石Fabry病的临床表现及肾脏病理学特征[期刊论文]-肾脏病与透析肾移植杂志2004(6)15.张巍,吕鹤,王朝霞,秦炯,邹丽萍,袁云Fabry病的临床、病理和α-半乳糖苷酶A活性研究[期刊论文]-中国神经精神疾病杂志2008(3)16.郭立琳,田庄,刘永太,方理刚,朱文玲Fabry病的心脏受累表现[期刊论文]-临床心血管病杂志2010(11)17.张明辉,刘艳辉,史伟,罗东兰,骆新兰,姚军,庄恒国Fabry病肾病临床病理分析[期刊论文]-临床与实验病理学杂志2010(2)18.程瑜,焦秦,闵颖君,钟一声Fabry病眼科临床表现分析[期刊论文]-眼科新进展2011(7)19.吕轶伦,陈佳韵,潘晓霞,陈晓农,张文,任红,陈楠α-半乳糖苷酶A活性检测与Fabry病诊断筛查[期刊论文]-诊断学理论与实践2007(5)20.李秋芬,胡云琴,鲁盈Fabry病4例报道并文献复习[期刊论文]-中国中西医结合肾病杂志2007(10)21.曲利娟,刘庆宏,郑智勇,季天海,余英豪,曾玲Fabry病肾病3例报告并文献复习[期刊论文]-中国误诊学杂志2007(26)22.SessaA;TosoniA;NebuloniM;PallottiF;GiordanoF;BattiniG;MaglioA;MeroniM;CalconiG;BertoloneG;GattiPRenalultrastructuralfindingsinAnderson-Fabrydisease[外文期刊]2002(2)23.VedderAC;LinthorstGE;vanBreemenMJTheDutchFabrycohort:diversityofclinicalmanifestationsandGb3levels200724.KitagawaT;IshigeN;SuzukiKNon-invasivescreeningmethodforFabrydiseasebymeasuringglobotriaosylceramideinwholeurinesamplesusingtandemmassspectrometry200525.TogawaT;KodamaT;SuzukiTPlasmaglobotriaosylsphingosineasabiomarkerofFabrydisease201026.中华医学会神经病学分会脑血管病学组急性缺血性脑卒中诊治指南撰写组中国急性缺血性脑卒中诊治指南2010[期刊论文]-中华神经科杂志2010(2)27.EngCM;GuffonN;WilcoxWRSafetyandefficacyofrecombinanthumanalpha-galactosidaseA--replacementtherapyinFabry'sdisease200128.SchiffmannR;KoppJB;AustinHA3rdEnzymereplacementtherapyinFabrydisease:arandomizedcontrolledtrial200129.Fabrazyme(agalsidasebeta)EuropeanPublicAssessmentReport(EPAR)201230.Replagal(agalsidasealfa)EuropeanPublicAssessmentReport(EPAR)201231.EngCM;GermainDP;BanikazemiMFabrydisease:guidelinesfortheevaluationandmanagementofmulti-organsysteminvolvement200632.FanJQ;IshiiS;AsanoNAcceleratedtransportandmaturationoflysosomalalpha-galactosidaseAinFabrylymphoblastsbyanenzymeinhibitor199933.ShinSH;MurrayGJ;Kluepfel-StahlSScreeningforpharmacologicalchaperonesinFabrydisease200734.YamGH;BosshardN;ZuberCPharmacologicalchaperonecorrectslysosomalstorageinFabrydiseasecausedbytrafficking-incompetentvariants200635.GermainDP;FanJQPharmacologicalchaperonetherapybyactive-site-specificchaperonesinFabrydisease:invitroandpreclinicalstudies200936.HughesDA;RamaswamU;ElliottPGuidelinesforthediagnosisandmanagementofAnderson-Fabrydisease2012引证文献(5条)1.徐春晓,刘靖,康曼德,赵亚雯,张巍,王朝霞,袁云转染突变型α-半乳糖苷酶A基因诱导细胞自噬异常及其作用机制探讨[期刊论文]-中华神经科杂志2015(07)2.张巍,康曼德,赵亚雯,李凡,舒俊龙,左越焕,刘靖,黄一宁,袁云法布里病患者多器官病变的临床特点分析[期刊论文]-中华医学杂志2015(23)3.纪永松,王展鹏,杜凯阳,程岚,石智勇,刘洪亮,李瑞Fabry病二例肾脏病理表现及文献复习[期刊论文]-中华临床医师杂志（电子版）2014(20)4.廖武琼,李典耕,谢大洋,陈仆,李清刚,陈香美以慢性肾炎综合征为主要表现的Fabry病2例报道并文献复习[期刊论文]-疑难病杂志2015(02)5.宋晓微,薛素芳,樊春秋,李潇颖,武剑青年缺血性卒中患者中法布里病出现率的调查[期刊论文]-中华医学杂志2014(47)引用本文格式：中国法布里病专家协作组中国法布里病(Fabry病)诊治专家共识[期刊论文]-中华医学杂志2013(4)