Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients

[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.