Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R et al.
Orphanet Journal of Rare Diseases, 2023
Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.
Luo Y et al.
Molecular Genetics & Genomic Medicine, 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
Sueoka H et al.
Plos One, 2015
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2014
Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.
Nakano S et al.
Plos One, 2013
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
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