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
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
Jurickova K et al.
Journal of Personalized Medicine, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
Brain MRI findings in children and adolescents with Fabry disease.
Marchesoni C et al.
Journal of the Neurological Sciences, 2018
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 disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 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
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
Trimarchi H et al.
International Journal of Nephrology, 2017
Increased urinary CD80 excretion and podocyturia in Fabry disease.
Trimarchi H et al.
Journal of Translational Medicine, 2016
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
Vylet'al P et al.
Journal of Inherited Metabolic Disease, 2008
Natural history of the respiratory involvement in Anderson-Fabry disease.
Magage S et al.
Journal of Inherited Metabolic Disease, 2007
A successful approach for the detection of Fabry patients in Argentina.
Rozenfeld PA et al.
Clinical Genetics, 2006
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients.
Rozenfeld PA et al.
Clinical & Experimental Ophthalmology, 0
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0