Associated Papers
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf
Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
Do HS et al.
Ebiomedicine, 2020
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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM2_ESM.xlsx › ST2
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
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
27916943 (PubMed )
Supplement: ijms-17-02010-s001.zip › ijms-157565-supplementary_file_1_done.xlsx › Tabella_aggiornamento
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Kim JH et al.
Journal of Human Genetics, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
27509102 (PubMed )
Supplement: nejmoa1510198_protocol.pdf
X-chromosome inactivation in female patients with Fabry disease.
Echevarria L et al.
Clinical Genetics, 2016
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH et al.
Journal of Human Genetics, 2010
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