Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

[1]  R. Bazan,et al.  Enzyme replacement therapy for Anderson-Fabry disease. , 2016, The Cochrane database of systematic reviews.

[2]  H. Markus,et al.  Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke , 2015, PloS one.

[3]  H. Fledelius,et al.  Ophthalmic experience over 10 years in an observational nationwide Danish cohort of Fabry patients with access to enzyme replacement , 2015, Acta ophthalmologica.

[4]  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.

[5]  C. Hollak,et al.  Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review , 2015, British Journal of Ophthalmology.

[6]  P. Elliott,et al.  Clinical and genetic predictors of major cardiac events in patients with Anderson–Fabry Disease , 2015, Heart.

[7]  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.

[8]  J. Oliveira,et al.  Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. , 2015, Molecular genetics and metabolism.

[9]  D. Zeevi,et al.  An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke. , 2014, Gene.

[10]  S. Nagueh Anderson-Fabry Disease and Other Lysosomal Storage Disorders , 2014, Circulation.

[11]  R. Hopkin,et al.  Fabry disease in infancy and early childhood: a systematic literature review , 2014, Genetics in Medicine.

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

[13]  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.

[14]  R. Giugliani,et al.  Fabry disease: a new approach for the screening of females in high-risk groups. , 2014, Clinical biochemistry.

[15]  P. Kuchynka,et al.  Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS) , 2014, Journal of Inherited Metabolic Disease.

[16]  D. G. MacArthur,et al.  Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.

[17]  V. Fuster,et al.  The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation. , 2013, Global heart.

[18]  C. Hollak,et al.  A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance , 2013, Journal of Medical Genetics.

[19]  T. Duning,et al.  Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene , 2013, PloS one.

[20]  Y. Eto,et al.  No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene. , 2012, Molecular genetics and metabolism.

[21]  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.

[22]  Y. Chien,et al.  Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations , 2012, Molecular medicine.

[23]  T. Kanekura,et al.  Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. , 2012, Molecular genetics and metabolism.

[24]  P. Elliott,et al.  Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey , 2011, Heart.

[25]  R. Baron,et al.  The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. , 2011, European journal of pain.

[26]  L. Tavazzi,et al.  When should cardiologists suspect Anderson-Fabry disease? , 2010, The American journal of cardiology.

[27]  A. Zwinderman,et al.  Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. , 2010, Biochimica et biophysica acta.

[28]  C. van Broeckhoven,et al.  Belgian Fabry Study: Prevalence of Fabry Disease in a Cohort of 1000 Young Patients With Cerebrovascular Disease , 2010, Stroke.

[29]  J. Ferro,et al.  Mutations of the GLA Gene in Young Patients With Stroke: The PORTYSTROKE Study—Screening Genetic Conditions in PORTuguese Young STROKE Patients , 2010, Stroke.

[30]  E. McDade,et al.  Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke , 2010, Stroke.

[31]  R. Kramar,et al.  Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. , 2004, Journal of the American Society of Nephrology : JASN.

[32]  A. Schwarting,et al.  The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy , 2004, Clinical genetics.

[33]  R. Desnick,et al.  Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele , 2003, Human mutation.

[34]  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.

[35]  Johannes B Reitsma,et al.  The STARD initiative , 2003, The Lancet.

[36]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[37]  R. Desnick,et al.  Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. , 1998, The Biochemical journal.

[38]  D. Altman,et al.  STATISTICAL METHODS FOR ASSESSING AGREEMENT BETWEEN TWO METHODS OF CLINICAL MEASUREMENT , 1986, The Lancet.

[39]  J. Hanley,et al.  A method of comparing the areas under receiver operating characteristic curves derived from the same cases. , 1983, Radiology.

[40]  R. Desnick,et al.  Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. , 1973, The Journal of laboratory and clinical medicine.

[41]  A. Beckett,et al.  AKUFO AND IBARAPA. , 1965, Lancet.

[42]  V. Friedewald Fabry Disease (Alpha-Galactosidase A Deficiency) , 2016 .

[43]  C. Wanner,et al.  Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease. , 2013, JIMD reports.

[44]  E. Young,et al.  Biochemical and genetic diagnosis of Fabry disease , 2006 .

[45]  R. Froissart,et al.  Mutation analysis in 11 French patients with Fabry disease , 1998, Human mutation.