Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Orphanet Journal Of Rare Diseases
Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB
Publication Date: 2020-01-29
Variant appearance in text: GLA: 611G>A; W204*; rs869312346
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Journal Of Medical Genetics
Germain, Dominique P DP; Charrow, Joel J; Desnick, Robert J RJ; Guffon, Nathalie N; Kempf, Judy J; Lachmann, Robin H RH; Lemay, Roberta R; Linthorst, Gabor E GE; Packman, Seymour S; Scott, C Ronald CR; Waldek, Stephen S; Warnock, David G DG; Weinreb, Neal J NJ; Wilcox, William R WR