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Results: 1-3 |
Results: 3
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening
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
Fabry Disease: Novel .-Galactosidase A 3.-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3.-End Formation
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
Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions
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
Risultati: 1-3 |