Associated Papers
Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.
Iacobucci I et al.
International Journal of Molecular Sciences, 2023
5-C-Branched Deoxynojirimycin: Strategy for Designing a 1-Deoxynojirimycin-Based Pharmacological Chaperone with a Nanomolar Affinity for Pompe Disease.
Kato A et al.
Journal of Medicinal Chemistry, 2022
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
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
Expression and characterization of the SOS1 Arabidopsis salt tolerance protein.
Ullah A et al.
Molecular and Cellular Biochemistry, 2016
Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A et al.
Gene, 2015
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Gal A et al.
Journal of Inherited Metabolic Disease, 2011
[Contribution of genotyping in Fabry's disease].
Froissart R et al.
La Revue De Medecine Interne, 2010
Fabry disease - current treatment and new drug development.
Motabar O et al.
Current Chemical Genomics, 2010
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Lin HY et al.
Circulation. Cardiovascular Genetics, 2009
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.
Shi ZD et al.
Analytical and Bioanalytical Chemistry, 2009
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M et al.
Human Mutation, 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
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
Chang HH et al.
The Febs Journal, 2006
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Yam GH et al.
American Journal of Physiology. Cell Physiology, 2006
Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.
Schaefer E et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2005
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Garman SC et al.
Journal of Molecular Biology, 2004
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Lai LW et al.
Clinical Genetics, 2003
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC et al.
Clinical Genetics, 2003
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.
Lapunzina P et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2003
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
Ishii S et al.
Archives of Biochemistry and Biophysics, 2000
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Chen CH et al.
Human Mutation, 1998