Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
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Wen-Chung Yu | R. Desnick | Hsiang-Yu Lin | S. Hung | Chia-Lin Hsu | S. Sung | D. Niu | Hui-Chen Ho | A. Yang | Hsuan-Chieh Liao | C. Chiang | Chia-Feng Yang | Hsing‐Yuan Li | Pi‐Chang Lee | I. Dzhagalov | Han-Jui Lee | Ting-Rong Hsu | Yung-Hsiu Lu | T. Chu | Ching-Yuang Lin | Fu-Pang Chang | Sheng-Kai Chang | Tsan-Chieh Liao | Han‐Jui Lee | Fu‐Pang Chang
[1] S. Chiou,et al. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy. , 2016, The Canadian journal of cardiology.
[2] R. Desnick,et al. α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease. , 2015, The American journal of pathology.
[3] Wen-Chung Yu,et al. When is the best time to start enzyme replacement therapy in patients with cardiac-type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype , 2015 .
[4] M. Beer,et al. Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. , 2014, The American journal of cardiology.
[5] Wen-Chung Yu,et al. Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A) , 2014, Orphanet Journal of Rare Diseases.
[6] F. Tsai,et al. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan. , 2014, Clinica chimica acta; international journal of clinical chemistry.
[7] R. Desnick,et al. Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent in patients with GLA later-onset mutations, polymorphisms, and variants , 2014 .
[8] Richard B. Thompson,et al. T1 Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex , 2013, Circulation. Cardiovascular imaging.
[9] M. Gelb,et al. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. , 2013, The Journal of pediatrics.
[10] K. Ihara,et al. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study , 2013, Journal of Human Genetics.
[11] C. A. Fossati,et al. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. , 2013, Molecular genetics and metabolism.
[12] S. K. White,et al. Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping , 2013, Circulation. Cardiovascular imaging.
[13] C. Vargas,et al. Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. , 2012, Biochimica et biophysica acta.
[14] Thomas P. Mechtler,et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria , 2012, The Lancet.
[15] M. Beer,et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. , 2011, JACC. Cardiovascular imaging.
[16] Shing‐Jong Lin,et al. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population , 2009, Circulation. Cardiovascular genetics.
[17] M. Beer,et al. Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment , 2009 .
[18] A. Linhart,et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. , 2008, International journal of cardiology.
[19] A. Cano,et al. [Fabry disease in childhood]. , 2007, Presse medicale.
[20] R. Desnick,et al. High incidence of later-onset fabry disease revealed by newborn screening. , 2006, American journal of human genetics.
[21] H. Ju,et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. , 2006, The American journal of cardiology.
[22] M. Burnier,et al. Cardiac and Vascular Hypertrophy in Fabry Disease: Evidence for a New Mechanism Independent of Blood Pressure and Glycosphingolipid Deposition , 2006, Arteriosclerosis, thrombosis, and vascular biology.
[23] Richard B Devereux,et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardio , 2005, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.
[24] Michael Jerosch-Herold,et al. Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis of Hypertrophic Cardiomyopathy , 2005, Circulation.
[25] M. Drazner,et al. Left Ventricular Hypertrophy Is More Prevalent in Blacks Than Whites in the General Population: The Dallas Heart Study , 2005, Hypertension.
[26] C. Eng,et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. , 2003, Kidney international.
[27] S. Packman,et al. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy , 2003, Annals of Internal Medicine.
[28] R. Desnick,et al. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. , 2002, American journal of human genetics.
[29] H. Sakuraba,et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. , 1995, The New England journal of medicine.
[30] S. Daniels,et al. Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight. , 1992, Journal of the American College of Cardiology.
[31] C. Eng,et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. , 1991, The New England journal of medicine.
[32] Carlene Campbell,et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. , 2015, The Journal of pediatrics.
[33] J. Stockman. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria , 2013 .
[34] A. Rolfs,et al. Newborn screening for lysosomal storage disorders in hungary. , 2012, JIMD reports.
[35] L. Mazzolai,et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. , 2010, European heart journal.
[36] 寺口 博幸. Terminal stage cardiac findings in patients with cardiac Fabry disease : an electrocardiographic, echocardiographic, and autopsy study , 2008 .
[37] Peter Bross,et al. The Metabolic and Molecular Basis of Inherited Disease: Protein Folding and Misfolding: the Role of Cellular Protein Quality Control Systems in Inherited Disorders , 2005 .
[38] R. Desnick,et al. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. , 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[39] R. Desnick. α-Galactosidase A deficiency. Fabry disease , 2001 .