Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
暂无分享,去创建一个
D. Lacombe | G. Deschênes | S. Decramer | A. Fouilhoux | D. Germain | S. Rivera | P. Pillet | M. Fila | M. Tardieu
[1] A. Hagège,et al. Fabry disease in cardiology practice: Literature review and expert point of view. , 2019, Archives of cardiovascular diseases.
[2] K. Hanawa,et al. Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis , 2019, Genetics in Medicine.
[3] J. Oliveira,et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts , 2019, Molecular genetics and metabolism reports.
[4] M. Pieroni. Review for "Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients" , 2019 .
[5] H. Kato,et al. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy , 2018, Clinical and Experimental Nephrology.
[6] F. Pizarro,et al. Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible? , 2018, Pediatric Nephrology.
[7] C. Eng,et al. Fabry disease revisited: Management and treatment recommendations for adult patients. , 2018, Molecular genetics and metabolism.
[8] K. Hanawa,et al. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis , 2018, Genetics in Medicine.
[9] J. Charrow,et al. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience , 2017, The Journal of pediatrics.
[10] W. Dreschler,et al. Hearing loss in children with Fabry disease , 2017, Journal of Inherited Metabolic Disease.
[11] M. Gelb,et al. Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs , 2017, International journal of neonatal screening.
[12] J. Politei,et al. Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies , 2017, PloS one.
[13] R. Carl,et al. Growing Pains , 2017, Sports health.
[14] 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.
[15] D. Lockhart,et al. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. , 2016, The New England journal of medicine.
[16] R. Bazan,et al. Enzyme replacement therapy for Anderson-Fabry disease. , 2016, The Cochrane database of systematic reviews.
[17] M. Cordova,et al. The Psychosocial Impact of Fabry Disease on Pediatric Patients , 2016, Journal of Pediatric Genetics.
[18] R. Schiffmann,et al. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy , 2016, Drug design, development and therapy.
[19] E. Svarstad,et al. Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients , 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[20] A. Mackie,et al. New Reference Centiles for Left Ventricular Mass Relative to Lean Body Mass in Children. , 2016, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.
[21] D. Bouhassira,et al. Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment , 2016, CNS neuroscience & therapeutics.
[22] R. Hopkin,et al. The management and treatment of children with Fabry disease: A United States-based perspective. , 2016, Molecular genetics and metabolism.
[23] A. Hagège,et al. X‐chromosome inactivation in female patients with Fabry disease , 2016, Clinical genetics.
[24] M. Cordova,et al. The neurocognitive impact of Fabry disease on pediatric patients , 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[25] M. Rudnicki,et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document , 2015, Orphanet Journal of Rare Diseases.
[26] S. Packman,et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease , 2015, Journal of Medical Genetics.
[27] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[28] J. Oliveira,et al. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. , 2015, Molecular genetics and metabolism.
[29] D. Warnock,et al. Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria , 2014, Nephron.
[30] P. Postema,et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. , 2014, International journal of cardiology.
[31] C. Sommer,et al. Characterization of Pain in Fabry Disease , 2014, The Clinical journal of pain.
[32] R. Hopkin,et al. Fabry disease in infancy and early childhood: a systematic literature review , 2014, Genetics in Medicine.
[33] S. Sestito,et al. Anderson-Fabry disease in children. , 2013, Current pharmaceutical design.
[34] B. Stoffel‐Wagner,et al. Precision of estimating equations for GFR in children with a solitary functioning kidney: the KIMONO study. , 2013, Clinical journal of the American Society of Nephrology : CJASN.
[35] M. Ballegaard,et al. Fabry disease in children: agalsidase‐beta enzyme replacement therapy , 2013, Clinical genetics.
[36] R. Hopkin,et al. Renal complications of Fabry disease in children , 2013, Pediatric Nephrology.
[37] D. Lockhart,et al. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies , 2012, Orphanet Journal of Rare Diseases.
[38] W. van Biesen,et al. Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT. , 2012, JIMD reports.
[39] D. Warnock,et al. Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. , 2012, Molecular genetics and metabolism.
[40] M. Sánchez-Niño,et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. , 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[41] D. Germain. Fabry disease , 2010, Orphanet journal of rare diseases.
[42] U. Ramaswami,et al. Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity , 2010, British Journal of Ophthalmology.
[43] U. Ramaswami,et al. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey , 2009, Journal of Inherited Metabolic Disease.
[44] P. Borry. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics , 2009, European Journal of Human Genetics.
[45] Susan L Furth,et al. New equations to estimate GFR in children with CKD. , 2009, Journal of the American Society of Nephrology : JASN.
[46] C. Eng,et al. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry , 2008, Pediatric Research.
[47] J. E. Wraith,et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. , 2008, The Journal of pediatrics.
[48] A. Mehta,et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. , 2007, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[49] A. Linhart,et al. Natural history of the respiratory involvement in Anderson–Fabry disease , 2007, Journal of Inherited Metabolic Disease.
[50] U. Ramaswami,et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease , 2007, Acta paediatrica.
[51] S. Brodie,et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement , 2006, Genetics in Medicine.
[52] R. Desnick,et al. High incidence of later-onset fabry disease revealed by newborn screening. , 2006, American journal of human genetics.
[53] A. Mehta,et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey , 2006, Acta paediatrica.
[54] P. Boutouyrie,et al. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease , 2005, Clinical genetics.
[55] Sandrine Roy,et al. Fast fingerprinting by MALDI–TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease , 2005, Analytical and bioanalytical chemistry.
[56] A. Mehta,et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey , 2004, European journal of clinical investigation.
[57] R. Desnick,et al. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. , 2003, Molecular genetics and metabolism.
[58] U. Ramaswami,et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents , 2003, European Journal of Pediatrics.
[59] C. Eng,et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. , 2003, Kidney international.
[60] P. Avan,et al. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients , 2002, BMC Medical Genetics.
[61] P. Elliott,et al. Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy , 2002, Circulation.
[62] K. Macdermot,et al. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males , 2001, Journal of medical genetics.
[63] 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.
[64] R. A. Wevers,et al. The frequency of lysosomal storage diseases in The Netherlands , 1999, Human Genetics.
[65] L. Poenaru,et al. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. , 1999, Biochemical and biophysical research communications.
[66] P. Meikle,et al. Prevalence of lysosomal storage disorders. , 1999, JAMA.
[67] A. Kahn,et al. Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease , 1996, Human Genetics.
[68] H. Sakuraba,et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. , 1995, The New England journal of medicine.
[69] C. Eng,et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. , 1991, The New England journal of medicine.
[70] R. Brady,et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. , 1967, The New England journal of medicine.
[71] C. Wanner,et al. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. , 2019, Molecular genetics and metabolism.
[72] D. Germain,et al. Principles of Human Genetics and Mendelian Inheritance , 2018 .
[73] Thomas P. Mechtler,et al. Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. , 2017, Molecular genetics and metabolism.
[74] L. Bostad,et al. Agalsidase benefits renal histology in young patients with Fabry disease. , 2013, Journal of the American Society of Nephrology : JASN.
[75] Germain Dp,et al. Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. , 2009 .
[76] D. Germain,et al. Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. , 2009, International journal of clinical pharmacology and therapeutics.
[77] David S. Wishart,et al. The Online Metabolic and Molecular Bases of Inherited Disease; Chapter 3.1: Metabolism and Metabolic Disease Resources on the Web, Page 1 , 2007 .
[78] R. Desnick. α-Galactosidase A deficiency. Fabry disease , 2001 .