Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease

[1]  J. England,et al.  Fabry's disease , 2014, Journal of the Neurological Sciences.

[2]  Manesh R. Patel,et al.  Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry , 2013, Genetics in Medicine.

[3]  L. Bostad,et al.  Agalsidase benefits renal histology in young patients with Fabry disease. , 2013, Journal of the American Society of Nephrology : JASN.

[4]  R. Desnick,et al.  Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease , 2010, PloS one.

[5]  D. Rosenthal,et al.  Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. , 2010, Blood.

[6]  R. Yoshida,et al.  Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease. , 2010, Auris, nasus, larynx.

[7]  R. Mitchell,et al.  Cardiac Microvascular Pathology in Fabry Disease: Evaluation of Endomyocardial Biopsies Before and After Enzyme Replacement Therapy , 2009, Circulation.

[8]  S. Packman,et al.  Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[9]  M. Beer,et al.  Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment , 2009 .

[10]  A. Linhart,et al.  Onset and progression of the Anderson-Fabry disease related cardiomyopathy. , 2008, International journal of cardiology.

[11]  J. Bronzwaer,et al.  Cardiovascular , Pulmonary and Renal Pathology Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease , 2010 .

[12]  Eric D. Adler,et al.  Human cardiovascular progenitor cells develop from a KDR+ embryonic-stem-cell-derived population , 2008, Nature.

[13]  R. Brady,et al.  Elevated globotriaosylsphingosine is a hallmark of Fabry disease , 2008, Proceedings of the National Academy of Sciences.

[14]  T. Ichisaka,et al.  Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors , 2007, Cell.

[15]  J. Charrow,et al.  Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. , 2007, Journal of the American Society of Nephrology : JASN.

[16]  D. Hughes,et al.  Natural history of Fabry disease in females in the Fabry Outcome Survey , 2005, Journal of Medical Genetics.

[17]  M. Elleder,et al.  Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease , 1990, Virchows Archiv A.

[18]  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 .

[19]  A. Komatsuda,et al.  A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders. , 2004, Clinical nephrology.

[20]  D. Pennell,et al.  Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. , 2003, European heart journal.

[21]  Oliver Turschner,et al.  Improvement of Cardiac Function During Enzyme Replacement Therapy in Patients With Fabry Disease: A Prospective Strain Rate Imaging Study , 2003, Circulation.

[22]  I. Komuro,et al.  Images in cardiovascular medicine. Myocardial fibrosis in fabry disease demonstrated by multislice computed tomography: comparison with biopsy findings. , 2003, Circulation.

[23]  A. Linhart,et al.  Cardiac involvement in Fabry disease , 2002, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[24]  R. Dietz,et al.  The heart in Anderson Fabry disease , 2002, Zeitschrift für Kardiologie.

[25]  R. Desnick,et al.  Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes , 2002, Molecular medicine.

[26]  K. Macdermot,et al.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females , 2001, Journal of medical genetics.

[27]  C. Eng,et al.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. , 2001, The New England journal of medicine.

[28]  R. Schiffmann,et al.  Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease , 2001, Clinical genetics.

[29]  L. O. C. Aplan,et al.  SAFETY AND EFFICACY OF RECOMBINANT HUMAN a -GALACTOSIDASE A REPLACEMENT THERAPY IN FABRY'S DISEASE , 2001 .

[30]  A. Kulkarni,et al.  Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. , 2000, The Journal of clinical investigation.

[31]  J. Roelandt,et al.  Images in Cardiovascular Medicine , 2000 .

[32]  G. Tognoni,et al.  Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. , 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[33]  C. P. Morris,et al.  A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease. , 1994, Human molecular genetics.

[34]  S. Tsuji [Alpha-galactosidase A deficiency--Fabry's disease]. , 1988, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.