Associated Papers
Newborn Screening in Fabry Disease.
Olszewska M et al.
International Journal of Molecular Sciences, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.
Paltzer A et al.
Nephron, 2025
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 2024
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.
Sun Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Laney DA et al.
Genetics in Medicine Open, 2024
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist M et al.
Journal of Medical Genetics, 2023
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
Viall S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
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.
Germain DP et al.
Journal of Medical Genetics, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA et al.
International Journal of Neonatal Screening, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
Li P et al.
Frontiers in Genetics, 2019
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
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
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.
Pettazzoni M et al.
Plos One, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Fabry or not Fabry--a question of ascertainment.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2011
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC).
Pillai NR et al.
Molecular Genetics and Metabolism, 0