Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
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
Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.
Nakamura K et al.
Molecular Genetics and Metabolism, 2020
Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease.
Yagita Y et al.
Stroke, 2019
31337300 (PubMed )
Supplement: str_stroke-2019-025528_supp1.pdf
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
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