Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Fabry disease: a rare disorder calling for personalized medicine.
Lerario S et al.
International Urology and Nephrology, 2024
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2023
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.
Zhang J et al.
International Journal of Molecular Sciences, 2021
Cardiac manifestations in patients with classical or cardiac subtype of Fabry disease.
Wang WT et al.
Journal of the Chinese Medical Association : Jcma, 2020
Fabry Disease with Pacemaker Implantation as the Initial Event.
Kato Y et al.
Internal Medicine (tokyo, Japan), 2019
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
Li P et al.
Frontiers in Genetics, 2019
Inhibition of Arachidonate 12/15-Lipoxygenase Improves α-Galactosidase Efficacy in iPSC-Derived Cardiomyocytes from Fabry Patients.
Chien Y et al.
International Journal of Molecular Sciences, 2018
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.
Dietz S et al.
Oncotarget, 2017
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.
Cabrera G et al.
Molecular Genetics and Metabolism Reports, 2017
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
Chou SJ et al.
International Journal of Cardiology, 2017
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
Kubo T et al.
Journal of Cardiology, 2017
Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.
Chien Y et al.
Oncotarget, 2016
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
Hsu TR et al.
Journal of the American College of Cardiology, 2016
Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.
Song HY et al.
International Journal of Molecular Sciences, 2016
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.
Ferri L et al.
Molecular Therapy. Nucleic Acids, 2016
Fabry's disease: an example of cardiorenal syndrome type 5.
Sharma A et al.
Heart Failure Reviews, 2015
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Tuttolomondo A et al.
Clinical Biochemistry, 2015
Epidemiology of lysosomal storage diseases in Sweden.
Hult M et al.
Acta Paediatrica (oslo, Norway : 1992), 2014
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Liu HC et al.
Orphanet Journal of Rare Diseases, 2014
FabryScan: a screening tool for early detection of Fabry disease.
Arning K et al.
Journal of Neurology, 2012
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.
Chien YH et al.
Molecular Medicine (cambridge, Mass.), 2012
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.
Tai CL et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Screening for disease in the newborn: the evidence base for blood-spot screening.
Wilcken B
Pathology, 2012
Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas.
Hogarth V et al.
Clinical and Experimental Dermatology, 2011
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
Dobrovolny R et al.
Human Mutation, 2011
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Hwu WL et al.
Human Mutation, 2009
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Lin HY et al.
Circulation. Cardiovascular Genetics, 2009