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。Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
Joao P. Oliveira et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype
Olga Azevedo et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Patricia Varela et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
Dominique P. Germain et al.
JOURNAL OF MEDICAL GENETICS (2020)
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
Ales Linhart et al.
EUROPEAN JOURNAL OF HEART FAILURE (2020)
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
Dawn A. Laney et al.
CLINICAL KIDNEY JOURNAL (2020)
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts
Dominique P. Germain et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Fabry disease in cardiology practice: Literature review and expert point of view
Albert Hagege et al.
ARCHIVES OF CARDIOVASCULAR DISEASES (2019)
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Dominique P. Germain et al.
CLINICAL GENETICS (2019)
Fabry pedigree analysis: A successful program for targeted genetic approach
Paula A. Rozenfeld et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
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
Dominique P. Germain et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2019)
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
Alberto B. Burlina et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy
Martin S. Maron et al.
AMERICAN JOURNAL OF MEDICINE (2018)
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017
Dana Doheny et al.
JOURNAL OF MEDICAL GENETICS (2018)
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
Hsuan-Chieh Liao et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz et al.
MOLECULAR GENETICS AND METABOLISM (2018)
European expert consensus statement on therapeutic goals in Fabry disease
Christoph Wanner et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Dominique P. Germain et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Multiple sclerosis and fabry Disease, two sides of the coin? The case of an Italian family
Camilla Russo et al.
MULTIPLE SCLEROSIS AND RELATED DISORDERS (2018)
A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women
Valeria Soares Pigozzi Veloso et al.
NEPHRON (2018)
Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center
Cheng-Jui Lin et al.
KIDNEY & BLOOD PRESSURE RESEARCH (2018)
Clinical utility gene card for: Fabry disease - update 2016
Andreas Gal et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Time delays in the diagnosis and treatment of Fabry disease
Ricardo Reisin et al.
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE (2017)
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Raphael Schiffmann et al.
KIDNEY INTERNATIONAL (2017)
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey Underdiagnosis of late-onset phenotype
Jin-Ho Choi et al.
MEDICINE (2017)
Fabry Disease in Families With Hypertrophic Cardiomyopathy Clinical Manifestations in the Classic and Later-Onset Phenotypes
Berglind Adalsteinsdottir et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2017)
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Magali Pettazzoni et al.
PLOS ONE (2017)
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
Yasutsugu Chinen et al.
HUMAN GENOME VARIATION (2017)
X-chromosome inactivation in female patients with Fabry disease
L. Echevarria et al.
CLINICAL GENETICS (2016)
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Orazio Gabrielli et al.
BMC MEDICAL GENETICS (2016)
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
Juan M. Politei et al.
CNS NEUROSCIENCE & THERAPEUTICS (2016)
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
Alberto Ortiz et al.
JOURNAL OF MEDICAL GENETICS (2016)
Later Onset Fabry Disease, Cardiac Damage Progress in Silence Experience With a Highly Prevalent Mutation
Ting-Rong Hsu et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
Kultigin Turkmen et al.
KIDNEY & BLOOD PRESSURE RESEARCH (2016)
The management and treatment of children with Fabry disease: A United States-based perspective
Robert J. Hopkin et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Determinants of white matter hyperintensity burden in patients with Fabry disease
Natalia S. Rost et al.
NEUROLOGY (2016)
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
D. P. Germain et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Electrocardiographic Changes and Arrhythmia in Fabry Disease
Mehdi Namdar
FRONTIERS IN CARDIOVASCULAR MEDICINE (2016)
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening
Cassiano Augusto Braga Silva et al.
NEPHRON (2016)
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais et al.
CLINICA CHIMICA ACTA (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P. Germain et al.
JOURNAL OF MEDICAL GENETICS (2015)
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies
Susana Ferreira et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Cerebrovascular Involvement in Fabry Disease Current Status of Knowledge
Edwin Kolodny et al.
STROKE (2015)
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
L. van der Tol et al.
JOURNAL OF MEDICAL GENETICS (2014)
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young
Isabel De Brabander et al.
CLINICAL NEUROLOGY AND NEUROSURGERY (2013)
Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation
Ilyas Okur et al.
GENE (2013)
Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics
Anna Rajab et al.
JOURNAL OF COMMUNITY GENETICS (2013)
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)
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
Albert A. Hagege et al.
HEART (2011)
Effect of intravenous flumazenil on oral midazolam pharmacokinetics and pharmacodynamics for use as a cytochrome P450 3A probe
J.D. Ma et al.
INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS (2011)
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
Alberto Ortiz et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
Fabry disease
Dominique P. Germain
ORPHANET JOURNAL OF RARE DISEASES (2010)
Fabry disease: a review of current management strategies
A. Mehta et al.
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2010)
A successful screening for Fabry disease in a Chinese dialysis patient population
Y. L. Lv et al.
CLINICAL GENETICS (2009)
Diagnosis of Fabry Disease via Analysis of Family History
Dawn A. Laney et al.
Journal of Genetic Counseling (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)
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Robert J. Hopkin et al.
PEDIATRIC RESEARCH (2008)
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population
Wim Terryn et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
Natural history of the respiratory involvement in Anderson-Fabry disease
S. Magage et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
A diagnosis of Fabry gastrointestinal disease by chance: a case report
Sandro Feriozzi et al.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2007)
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population
Miroslav Merta et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2007)
High incidence of later-onset Fabry disease revealed by newborn screening
Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase A gene mutation
R Dobrovolny et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a renal variant phenotype
S Nakao et al.
KIDNEY INTERNATIONAL (2003)
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
RJ Desnick et al.
ANNALS OF INTERNAL MEDICINE (2003)
Alternative splicing in the α-galactosidase A gene:: Increased exon inclusion results in the Fabry cardiac phenotype
S Ishii et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
B Sachdev et al.
CIRCULATION (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)
分享论文
