相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction Versus Treatment Switch
Frank Weidemann et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)
A Metabolomic Study To Identify New Globotriaosylceramide-Related Biomarkers in the Plasma of Fabry Disease Patients
Victoria Manwaring et al.
ANALYTICAL CHEMISTRY (2013)
Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
Hiroki Maruyama et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors
Dawn A. Laney et al.
JOURNAL OF GENETIC COUNSELING (2013)
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
F. Weidemann et al.
JOURNAL OF INTERNAL MEDICINE (2013)
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease
Markus Cybulla et al.
JOURNAL OF NEPHROLOGY (2013)
The Identification of New Biomarkers for Identifying and Monitoring Kidney Disease and Their Translation into a Rapid Mass Spectrometry-Based Test: Evidence of Presymptomatic Kidney Disease in Pediatric Fabry and Type-I Diabetic Patients
Victoria Manwaring et al.
JOURNAL OF PROTEOME RESEARCH (2013)
Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease
Camilla Tondel et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects
R. Giugliani et al.
MOLECULAR GENETICS AND METABOLISM (2013)
A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease
D. A. Hughes et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Saskia M. Rombach et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Dysregulated Autophagy Contributes to Podocyte Damage in Fabry's Disease
Max C. Liebau et al.
PLOS ONE (2013)
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
Jan Lukas et al.
PLOS GENETICS (2013)
Females and children with Anderson-Fabry disease: diagnosis, monitoring, benefits of enzyme replacement therapy (ERT) and considerations on timing of starting ERT
Rossella Parini et al.
EXPERT OPINION ON ORPHAN DRUGS (2013)
Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics
Christiane Auray-Blais et al.
ANALYTICAL CHEMISTRY (2012)
The Effectiveness of Long-Term Agalsidase Alfa Therapy in the Treatment of Fabry Nephropathy
Sandro Feriozzi et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Interdisciplinary approach towards female patients with Fabry disease
Frank Weidemann et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2012)
Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)
Kazuya Tsuboi et al.
GENETICS IN MEDICINE (2012)
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
Caterina Porto et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Fabry disease, enzyme replacement therapy and the significance of antibody responses
Patrick B. Deegan
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Derralynn A. Hughes et al.
JOURNAL OF MEDICAL GENETICS (2012)
Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature
Antonio Pisani et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
David G. Warnock et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)
Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome
Saskia M. Rombach et al.
PLOS ONE (2012)
Treatment of Fabry Disease: Current and Emerging Strategies
Paula Rozenfeld et al.
CURRENT PHARMACEUTICAL BIOTECHNOLOGY (2011)
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
Behzad Najafian et al.
KIDNEY INTERNATIONAL (2011)
Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease
Miguel-Angel Torralba-Cabeza et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy
Maria D. Sanchez-Nino et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2011)
Targeted urine microscopy in Anderson-Fabry Disease: a cheap, sensitive and specific diagnostic technique
Mathu Selvarajah et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2011)
Blood Pressure, Proteinuria and Nephropathy in Fabry Disease
Gaurav Jain et al.
NEPHRON CLINICAL PRACTICE (2011)
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
Bouwien E. Smid et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy
Andreas D. Kistler et al.
PLOS ONE (2011)
Receptor-Mediated Endocytosis of α-Galactosidase A in Human Podocytes in Fabry Disease
Thaneas Prabakaran et al.
PLOS ONE (2011)
Differences in Fabry Cardiomyopathy Between Female and Male Patients Consequences for Diagnostic Assessment
Markus Niemann et al.
JACC-CARDIOVASCULAR IMAGING (2011)
Therapeutic Implications of Renal Transplantation in a Patient with Fabry's Disease
F. A. J. T. M. Bergh et al.
ACTA MEDICA SCANDINAVICA (2010)
Enzyme Replacement Therapy and Fabry Nephropathy
David G. Warnock et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy
Renzo Mignani et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry
Christoph Wanner et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Therapeutic goals in the treatment of Fabry disease
Atul Mehta et al.
GENETICS IN MEDICINE (2010)
Age adjusting severity scores for Anderson-Fabry Disease
D. A. Hughes et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Vasculopathy in patients with Fabry disease: Current controversies and research directions
S. M. Rombach et al.
MOLECULAR GENETICS AND METABOLISM (2010)
A validated disease severity scoring system for Fabry disease
Edward H. Giannini et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Plasma globotriaosylsphingosine as a biomarker of Fabry disease
Tadayasu Togawa et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)
Agnes B. Fogo et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
Alberto Ortiz et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease
Saskia M. Rombach et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
Fabry disease
Dominique P. Germain
ORPHANET JOURNAL OF RARE DISEASES (2010)
Fabry disease: enzymatic screening using dried blood spots on filter paper
E. Caudron et al.
REVUE DE MEDECINE INTERNE (2010)
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
Jean-Claude Lubanda et al.
GENETICS IN MEDICINE (2009)
Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
Stephen Waldek et al.
GENETICS IN MEDICINE (2009)
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease
Catharina Whybra et al.
GENETICS IN MEDICINE (2009)
Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey
A. Mehta et al.
JOURNAL OF MEDICAL GENETICS (2009)
Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease
Satoshi Ishii et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2009)
Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
Michael West et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2009)
New Equations to Estimate GFR in Children with CKD
George J. Schwartz et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2009)
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
A. Mehta et al.
LANCET (2009)
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
Raphael Schiffmann et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2009)
Kidney Transplant Outcomes in Patients With Fabry Disease
Tariq Shah et al.
TRANSPLANTATION (2009)
Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria
Camilla Tondel et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2008)
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
P. Vylet'al et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Fabry disease: An underrecognized cause of proteinuria
F. C. Fervenza et al.
KIDNEY INTERNATIONAL (2008)
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
William R. Wilcox et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
Jin-Song Shen et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy
Alberto Ortiz et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Robert J. Hopkin et al.
PEDIATRIC RESEARCH (2008)
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy
Carmen Valbuena et al.
VIRCHOWS ARCHIV (2008)
Antiproteinuric therapy and Fabry nephropathy:: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-β
Hindia Tahir et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
Gregory M. Pastores et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2007)
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
Raphael Schiffmann et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease
Dominique P. Germain et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
C. M. Eng et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature
O. Lidove et al.
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE (2007)
Agalsidase-beta therapy for advanced Fabry disease - A randomized trial
Maryam Banikazemi et al.
ANNALS OF INTERNAL MEDICINE (2007)
Fabry disease: a morphologic study of 11 cases
Edgar G. Fischer et al.
MODERN PATHOLOGY (2006)
Prevalence of uncontrolled hypertension in patients with Fabry disease
Julia Kleinert et al.
AMERICAN JOURNAL OF HYPERTENSION (2006)
Natural history of Fabry disease in females in the Fabry outcome survey
PB Deegan et al.
JOURNAL OF MEDICAL GENETICS (2006)
Clinical benefit of enzyme replacement therapy in Fabry disease
F Breunig et al.
KIDNEY INTERNATIONAL (2006)
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
R Schiffmann et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2006)
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
A Mehta et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2004)
Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease
M Ries et al.
KIDNEY INTERNATIONAL (2004)
Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease
M Kosch et al.
KIDNEY INTERNATIONAL (2004)
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
WR Wilcox et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Patients with Fabry disease on dialysis in the United States
R Thadhani et al.
KIDNEY INTERNATIONAL (2002)
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.
CM Eng et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Enzyme replacement therapy in Fabry disease - A randomized controlled trial
R Schiffmann et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
Renal pathological changes in Fabry disease
A Sessa et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Excellent outcome of renal transplantation in patients with Fabry's disease
A Ojo et al.
TRANSPLANTATION (2000)