Associated Papers
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
32161151 (PubMed )
Supplement: jmedgenet-2019-106467supp001.pdf
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 › Unknown
Familial LCAT deficiency: from renal replacement to enzyme replacement.
Stoekenbroek RM et al.
The Netherlands Journal of Medicine, 2013
Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.
Thurberg BL et al.
Human Pathology, 2012
Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy.
Bouwman MG et al.
Placenta, 2010
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Auray-Blais C et al.
Molecular Genetics and Metabolism, 2008
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC et al.
Journal of Inherited Metabolic Disease, 2007
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
Linthorst GE et al.
Kidney International, 2004
Select a paper to view details