Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease.
Nilsson M et al.
Ophthalmic Genetics, 2022
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
36013057 (PubMed )
Supplement: jcm-11-04810-s001.zip › jcm-1818880-supplementary.pdf
Many Faces of Fabry's Cardiomyopathy.
Jain R et al.
Jacc. Cardiovascular Imaging, 2018
Association of renal ectopia with Fabry's disease in 3 patients.
Rákóczi E et al.
The Journal of Urology, 2009
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
Erdos M et al.
Molecular Genetics and Metabolism, 2008
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Caggana M et al.
American Journal of Medical Genetics, 1997
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng CM et al.
Human Molecular Genetics, 1994
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