Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
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
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
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
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 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
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.
Fan JQ
Biological Chemistry, 2008
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Sugawara K et al.
Journal of Human Genetics, 2008
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ et al.
The Febs Journal, 2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
Structure-function relationships in alpha-galactosidase A.
Garman SC
Acta Paediatrica (oslo, Norway : 1992), 2007
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Matsuzawa F et al.
Human Genetics, 2005
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Okumiya T et al.
Human Mutation, 1998
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Okumiya T et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1997