Associated Papers
Unveiling Functional Impairment in Fabry Disease: The Role of Peripheral vs. Cardiac Mechanisms.
Halasz G et al.
Biomedicines, 2025
An Overlooked Family with a Rare Mutation for Fabry Disease.
Babur Güler G et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2025
A foundational atlas of autism protein interactions reveals molecular convergence.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.
Bitirgen G et al.
Scientific Reports, 2021
Fabry Disease Prevalence in Renal Replacement Therapy in Turkey.
Yalın SF et al.
Nephron, 2019
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.
Bitirgen G et al.
Scientific Reports, 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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function.
Baroni M et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations.
Kimura K et al.
The British Journal of Dermatology, 2002
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