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
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Zampetti A et al.
Cytokine, 2013
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification.
Marín Gómez H et al.
Therapeutic Advances in Rare Disease, 0
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