Associated Papers
Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA.
Elçin-Guinot S et al.
International Journal of Molecular Sciences, 2025
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Mursă A et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Low skeletal muscle mass as an early sign in children with fabry disease.
Lu Z et al.
Orphanet Journal of Rare Diseases, 2023
Characterization of cellular phenotypes in neurons derived from induced pluripotent stem cells of male patients with Fabry disease.
Miyajima T et al.
Journal of Inherited Metabolic Disease, 2023
The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.
Rusu EE et al.
Biomedicines, 2022
Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata V et al.
International Journal of Molecular Sciences, 2021
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R et al.
Clinical Genetics, 2021
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology.
Birket MJ et al.
Stem Cell Reports, 2019
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Di Martino MT et al.
Oncotarget, 2016
Human-induced pluripotent stem cell approaches to model inborn and acquired metabolic heart diseases.
Chanana AM et al.
Current Opinion in Cardiology, 2016
Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.
Itier JM et al.
Journal of Inherited Metabolic Disease, 2014
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Germain DP et al.
Molecular Medicine (cambridge, Mass.), 2002
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Branton MH et al.
Medicine, 2002
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA et al.
Journal of Human Genetics, 2001
Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM et al.
Human Mutation, 2000
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
Glass RB et al.
Journal of Computer Assisted Tomography, 0
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Militaru S et al.
Current Health Sciences Journal, 0