Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

por Torres, Rosa J, Puig, Juan G
Publicado 2007

Macrocytic Anemia In Lesch-Nyhan Disease and its Variants

por Cakmakli, Hasan F., Torres, Rosa J., Menendez, Araceli, Yalcin-Cakmakli, Gul, Porter, Christopher C., Puig, Juan Garcia, Jinnah, H.A.
Publicado 2018

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

por Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Publicado 2014

Attenuated variants of Lesch-Nyhan disease

por Jinnah, H. A., Ceballos-Picot, Irene, Torres, Rosa J., Visser, Jasper E., Schretlen, David J., Verdu, Alfonso, Laróvere, Laura E., Chen, Chung-Jen, Cossu, Antonello, Wu, Chien-Hui, Sampat, Radhika, Chang, Shun-Jen, de Kremer, Raquel Dodelson, Nyhan, William, Harris, James C., Reich, Stephen G., Puig, Juan G.
Publicado 2010

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020