Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients
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Wen-Chung Yu | Yen-Feng Wang | S. Hung | Po‐Hsun Huang | S. Sung | D. Niu | Ming-Jia Hsu | I. Dzhagalov | Ting-Rong Hsu | Yung-Hsiu Lu | Chia-Lin Hsu | Sheng-Kai Chang | An-Hang Yang | Yu-Chen Wang | Han‐Jui Lee | Fu‐Pang Chang
[1] Wen-Chung Yu,et al. Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. , 2016, Journal of the American College of Cardiology.
[2] S. Chiou,et al. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy. , 2016, The Canadian journal of cardiology.
[3] 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.
[4] Richard B. Thompson,et al. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment , 2015, Heart Failure Reviews.
[5] 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.
[6] N. Raben,et al. Pompe disease: from pathophysiology to therapy and back again , 2014, Front. Aging Neurosci..
[7] 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.
[8] 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.
[9] 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.
[10] C. A. Fossati,et al. Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. , 2013, Molecular genetics and metabolism.
[11] 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.
[12] Thomas P. Mechtler,et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria , 2012, The Lancet.
[13] D. Germain. Fabry disease , 2010, Orphanet journal of rare diseases.
[14] 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.
[15] P. Elliott,et al. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey , 2009, Journal of Medical Genetics.
[16] M. Beer,et al. Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment , 2009 .
[17] C. Tei,et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. , 2008, Journal of cardiology.
[18] R. Schiffmann,et al. Cellular and tissue localization of globotriaosylceramide in Fabry disease , 2007, Virchows Archiv.
[19] B. Han,et al. Right Ventricular Fat Infiltration in Asymptomatic Subjects: Observations from ECG-gated 16-slice Multidetector CT , 2007, Journal of computer assisted tomography.
[20] B. Thurberg,et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease , 2006, Laboratory Investigation.
[21] R. Desnick,et al. High incidence of later-onset fabry disease revealed by newborn screening. , 2006, American journal of human genetics.
[22] 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.
[23] 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.
[24] Y. Jigami,et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice , 2006, Journal of Human Genetics.
[25] R. Brady,et al. Fabry disease in childhood. , 2004, The Journal of pediatrics.
[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. Brady,et al. Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[29] R. Frank,et al. Fat in the heart. A feature unique to the human species? Observational reflections on an unsolved problem. , 1999, Acta cardiologica.
[30] H. Sakuraba,et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. , 1995, The New England journal of medicine.
[31] K. Ogura,et al. Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine. , 1994, Archives of biochemistry and biophysics.
[32] C. Eng,et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. , 1991, The New England journal of medicine.
[33] 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.
[34] A. Rolfs,et al. Newborn screening for lysosomal storage disorders in hungary. , 2012, JIMD reports.
[35] D. Lockhart,et al. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.
[36] L. Mazzolai,et al. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. , 2010, European heart journal.
[37] M. Beer,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.
[38] G. Thiene,et al. Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat? , 2005, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.
[39] S. Packman,et al. Fabry Disease , an UnderRecognized Multisystemic Disorder : Expert Recommendations for Diagnosis , Management , and Enzyme Replacement Therapy , 2003 .
[40] R. Desnick. α-Galactosidase A deficiency. Fabry disease , 2001 .
[41] J. L. Griffin. Infantile acid maltase deficiency , 1984, Virchows Archiv. B, Cell pathology including molecular pathology.
[42] J. L. Griffin. Infantile acid maltase deficiency , 1984, Virchows Archiv. B, Cell pathology including molecular pathology.