肥厚型心肌病患者中Fabry病发生情况和临床、超声心动图及基因突变特点的分析[J]. 杨帆;王静;王博;李文霞;康楠;左蕾;刘丽文.中国超声医学杂志,2018(03)

An Expert Consensus Document on the Management of Cardiovascular Manifestations of Fabry Disease.[J]. Linhart Ale?;Germain Dominique P;Olivotto Iacopo;Akhtar Mohammed M;Anastasakis Aris;Hughes Derralynn;Namdar Mehdi;Pieroni Maurizio;Hagège Albert;Cecchi Franco;Gimeno Juan R;Limongelli Giuseppe;Elliott Perry.European journal of heart failure,2020(7)

The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts.[J]. Chimenti Cristina;Nencini Patrizia;Pieruzzi Federico;Feriozzi Sandro;Mignani Renzo;Pieroni Maurizio;Pisani Antonio.Orphanet journal of rare diseases,2020(1)

Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy.[J]. Vijapurapu Ravi;Geberhiwot Tarekegn;Jovanovic Ana;Baig Shanat;Nordin Sabrina;Kozor Rebecca;Leyva Francisco;Kotecha Dipak;Wheeldon Nigel;Deegan Patrick;Rusk Rosemary A;Moon James C;Hughes Derralynn A;Woolfson Peter;Steeds Richard P.Heart (British Cardiac Society),2019(23)

Successful Combined Heart and Kidney Transplantation in Patient With Fabry's Disease: A Case Report[J]. Navin Rajagopalan;Donna R. Dennis;William O’Connor.Transplantation Proceedings,2019(9)

The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study[J]. Barman Hasan Ali;?kitimur Bar??;K?l??k?ran Avc? Bur?ak;Durmaz Eser;At?c? Adem;Aslan Serkan;Ceylaner Serdar;Karpuz Hakan.Balkan medical journal,2019(6)

Echocardiographic features of Fabry cardiomyopathy-Comparison with hypertrophy-matched sarcomeric hypertrophic cardiomyopathy.[J]. Militaru Sebastian;Jurcu? Ruxandra;Adam Robert;Ro?ca Monica;Ginghina Carmen;Popescu Bogdan A.Echocardiography (Mount Kisco, N.Y.),2019(11)

Anderson-Fabry disease in heart failure.[J]. Akhtar M M;Elliott P M.Biophysical reviews,2018(4)

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.[J]. Germain Dominique P;Brand Eva;Burlina Alessandro;Cecchi Franco;Garman Scott C;Kempf Judy;Laney Dawn A;Linhart Ale?;Maródi László;Nicholls Kathy;Ortiz Alberto;Pieruzzi Federico;Shankar Suma P;Waldek Stephen;Wanner Christoph;Jovanovic Ana.Molecular genetics & genomic medicine,2018(4)

Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy[J]. Haran Yogasundaram;Daniel Kim;Omar Oudit;Richard B. Thompson;Frank Weidemann;Gavin Y. Oudit.Canadian Journal of Cardiology,2017(7)

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference[J]. Raphael Schiffmann;Derralynn A. Hughes;Gabor E. Linthorst;Alberto Ortiz;Einar Svarstad;David G. Warnock;Michael L. West;Christoph Wanner;Daniel G. Bichet;Erik Ils? Christensen;Ricardo Correa-Rotter;Perry M. Elliott;Sandro Feriozzi;Agnes B. Fogo;Dominique P. Germain;Carla E.M. Hollak;Robert J. Hopkin;Jack Johnson;Ilkka Kantola;Jeffrey B. Kopp;Jürgen Kr?ner;Ale? Linhart;Ana Maria Martins;Dietrich Matern;Atul B. Mehta;Renzo Mignani;Behzad Najafian;Ichiei Narita;Kathy Nicholls;Greg.Kidney International,2016

Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.[J]. Putko Brendan N;Wen Kevin;Thompson Richard B;Mullen John;Shanks Miriam;Yogasundaram Haran;Sergi Consolato;Oudit Gavin Y.Heart failure reviews,2015(2)

[2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy].[J]. Elliott Perry M;Anastasakis Aris;Borger Michael A;Borggrefe Martin;Cecchi Franco;Charron Phillippe;Hagege Albert Alain;Lafont Antoine;Limongelli Giuseppe;Mahrholdt Heiko;McKenna Wiliam J;Mogensen Jens;Nihoyannopoulos Petros;Nistri Stefano;Pieper Petronella G;Pieske Burkert;Rapezzi Claudio;Rutten Frans H;Tillmanns Christoph;Watkins Hugh.Kardiologia polska,2014(11)

Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.[J]. Mahmud Huma Mamun.JPMA. The Journal of the Pakistan Medical Association,2014(2)

Cost-effectiveness of enzyme replacement therapy for Fabry disease.[J]. Rombach Saskia M;Hollak Carla E M;Linthorst Gabor E;Dijkgraaf Marcel G W.Orphanet journal of rare diseases,2013(1)

Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study[J]. Cristina Chimenti;Luca Padua;Costanza Pazzaglia;Emanuela Morgante;Carlos Centurion;Daniela Antuzzi;Matteo A. Russo;Andrea Frustaci.Human Pathology,2012(9)

Cardiovascular Events in Patients With Fabry Disease[J]. Manesh R. Patel;Franco Cecchi;Marta Cizmarik;Ilkka Kantola;Ales Linhart;Kathy Nicholls;J?rg Strotmann;Jose Tallaj;Thi Chien Tran;Michael L. West;Dana Beitner-Johnson;Ademola Abiose.Journal of the American College of Cardiology,2011(9)

Aortic remodelling in Fabry disease.[J]. Barbey Frédéric;Qanadli Salah D;Juli Christoph;Brakch Noureddine;Palacek Tomás;Rizzo Elena;Jeanrenaud Xavier;Eckhardt Boris;Linhart Ales.European heart journal,2010(3)

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry.[J]. Waldek Stephen;Patel Manesh R;Banikazemi Maryam;Lemay Roberta;Lee Philip.Genetics in medicine : official journal of the American College of Medical Genetics,2009(11)

Anderson-Fabry Disease and the Heart[J]. Constantinos O'Mahony;Perry Elliott.Progress in Cardiovascular Diseases,2009(4)

Heart Valve Involvement in Fabry Cardiomyopathy[J]. Frank Weidemann;Joerg M. Strotmann;Markus Niemann;Sebastian Herrmann;Mario Wilke;Meinrad Beer;Wolfram Voelker;Georg Ertl;Andrea Emmert;Christoph Wanner;Frank Breunig.Ultrasound in Medicine & Biology,2008(5)

Prevalence and Clinical Significance of Cardiac Arrhythmia in Anderson-Fabry Disease[J]. Jaymin S. Shah;Derralynn A. Hughes;Bhavesh Sachdev;Maite Tome;Deirdre Ward;Philip Lee;Atul B. Mehta;Perry M. Elliott.The American Journal of Cardiology,2005(6)

Cardiac manifestations of Anderson–Fabry disease in heterozygous females[J]. Christoph Kampmann;Frank Baehner;Catharina Whybra;Claudia Martin;Christiane M Wiethoff;Markus Ries;Andreas Gal;Michael Beck.Journal of the American College of Cardiology,2002(9)

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.[J]. Branton Mary H;Schiffmann Raphael;Sabnis Sharda G;Murray Gary J;Quirk Jane M;Altarescu Gheona;Goldfarb Lev;Brady Roscoe O;Balow James E;Austin Iii Howard A;Kopp Jeffrey B.Medicine,2002(2)

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.[J]. MacDermot K D;Holmes A;Miners A H.Journal of medical genetics,2001(11)