Authors:
Spada, Marco
Pagliardini, Severo
Yasuda, Makiko
Tukel, Turgut
Thiagarajan, Geetha
Sakuraba, Hitoshi
Ponzone, Alberto
Desnick, Robert J
Citation: Spada, Marco et al., High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening, American journal of human genetics , 79(1), 2006, pp. 31-40
Authors:
Yasuda, Makiko
Shabbeer, Junidad
Osawa, Makiko
Desnick, Robert J.
Citation: Yasuda, Makiko et al., Fabry Disease: Novel .-Galactosidase A 3.-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3.-End Formation, American journal of human genetics , 73(1), 2003, pp. 162-173
Authors:
Bishop, David F.
Johansson, Annika
Phelps, Robert
Shady, Amr A.
Ramirez, Maria C.M
Yasuda, Makiko
Caro, Andres
Desnick, Robert J
Citation: F. Bishop, David et al., Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions, American journal of human genetics , 78(4), 2006, pp. 645-658