Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate α-galactosidase and α-N-acetylgalactosaminidase

Por Hujová, Jana, Sikora, Jakub, Dobrovolný, Robert, Poupětová, Helena, Ledvinová, Jana, Kostrouchová, Marta, Hřebíček, Martin
Publicado em 2005

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

Por Keslová-Veselíková, Jana, Hůlková, Helena, Dobrovolný, Robert, Asfaw, Befekadu, Poupětová, Helena, Berná, Linda, Sikora, Jakub, Goláň, Lubor, Ledvinová, Jana, Elleder, Milan
Publicado em 2008

Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

Por Wozniak, Marcella A., Kittner, Steven J., Tuhrim, Stanley, Cole, John W., Stern, Barney, Dobbins, Mark, Grace, Marie E., Nazarenko, Irina, Dobrovolny, Robert, McDade, Eric, Desnick, Robert J.
Publicado em 2009

Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Mutation c.936+919G>A (IVS4+919G>A)

Por Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Dobrovolny, Robert, Huang, Ai-Chu, Yeh, Hey-Yin, Chao, May-Chin, Lin, Shio-Jean, Kitagawa, Teruo, Desnick, Robert J., Hsu, Li-Wen
Publicado em 2009