Associated Papers
Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review.
Kido Y et al.
Cureus, 2025
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 2024
Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.
Avarappattu J et al.
Pediatric Nephrology (berlin, Germany), 2024
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Treatable lysosomal storage diseases in the advent of disease-specific therapy.
Peters H et al.
Internal Medicine Journal, 2020
Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?
Ittisoponpisan S et al.
Journal of Molecular Biology, 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
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
Franzen D et al.
Bmj Open Respiratory Research, 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
X-chromosome inactivation in female patients with Fabry disease.
Echevarria L et al.
Clinical Genetics, 2016
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP et al.
Journal of Medical Genetics, 2015
Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.
Fuller M et al.
Molecular Genetics and Metabolism, 2015
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes.
Fuller M et al.
Clinical Chemistry, 2005
Clinical features of Fabry's disease in Australian patients.
Galanos J et al.
Internal Medicine Journal, 2002
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Germain D et al.
Human Genetics, 1996
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Blanch LC et al.
Human Mutation, 1996
Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report.
Germain DP et al.
European Journal of Medical Genetics, 0
New mutation in female patient with renal variant of Fabry disease and HIV.
Solis MA et al.
Journal of Nephrology, 0