Associated Papers
Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN et al.
Bmc Nephrology, 2023
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Safety of agalsidase alfa in patients with Fabry disease under 7 years.
Ramaswami U et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity.
Allen LE et al.
The British Journal of Ophthalmology, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
Ramaswami U et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E 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: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP et al.
European Journal of Human Genetics : Ejhg, 1996
Select a paper to view details