Associated Papers
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
Fabry disease and kidney involvement: starting from childhood to understand the future.
Chimenz R et al.
Pediatric Nephrology (berlin, Germany), 2022
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
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
Fabry Nephropathy: An Evidence-Based Narrative Review.
Del Pino M et al.
Kidney & Blood Pressure Research, 2018
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
Lenders M et al.
Journal of Internal 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
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
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Safety of agalsidase alfa in patients with Fabry disease under 7 years.
Ramaswami U et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
Ramaswami U et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Cybulla M et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2005
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005