Associated Papers
Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy.
Cazzaniga G et al.
Scientific Reports, 2026
Inner retinal hyper-reflective foci number correlates with flood-illumination adaptive optics ophthalmoscopy grading and systemic organ involvement in patients with Fabry disease.
Bacherini D et al.
Eye (london, England), 2025
Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro.
Yang Z et al.
International Journal of Biological Macromolecules, 2024
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.
Zedde M et al.
Cells, 2024
A Systematic Review on Safety and Efficacy of Migalastat for the treatment of Fabry's Disease.
Majid H et al.
Expert Opinion on Pharmacotherapy, 2024
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.
Mignani R et al.
Orphanet Journal of Rare Diseases, 2024
Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report.
Zhao M et al.
Journal of Cardiovascular Development and Disease, 2023
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
Perillo S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?
Zedde M et al.
Biomedicines, 2022
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data.
Riccio E et al.
European Journal of Human Genetics : Ejhg, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
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
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
Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.
Gago MF et al.
Journal of Parkinson's Disease, 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
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
Parkinson's disease prevalence in Fabry disease: A survey study.
Wise AH et al.
Molecular Genetics and Metabolism Reports, 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 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
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA et al.
Journal 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
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
A thermodynamic assay to test pharmacological chaperones for Fabry disease.
Andreotti G et al.
Biochimica Et Biophysica Acta, 2014
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease.
Tomberli B et al.
European Journal of Heart Failure, 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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases.
Buechner S et al.
Aging Clinical and Experimental Research, 2006
Diffuse structural and metabolic brain changes in Fabry disease.
Marino S et al.
Journal of Neurology, 2006
Parkinsonism and Anderson Fabry's disease: a case report.
Buechner S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
Mills K et al.
Journal of Inherited Metabolic Disease, 2005
Anderson-Fabry disease with cerebrovascular complications in two Italian families.
Borsini W et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2002
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA et al.
Journal of Human Genetics, 2001
Anderson-Fabry disease: molecular analysis and clinical manifestations in three Italian families.
Torricelli F et al.
Contributions to Nephrology, 2001
A case of endomyocardial biopsy-proven early stage cardiac involvement in heterozygous Fabry disease.
Kanamori H et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0