Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

Por Rajagopal, Abbhirami, Braslavsky, Débora, Lu, James T., Kleppe, Soledad, Clément, Florencia, Cassinelli, Hamilton, Liu, David S., Liern, Jose Miguel, Vallejo, Graciela, Bergadá, Ignacio, Gibbs, Richard A., Campeau, Phillipe M., Lee, Brendan H.
Publicado no J Clin Endocrinol Metab (2014)

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Por Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A.
Publicado no J Clin Invest (2017)

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Por Munns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, DiMeglio, Linda A., Atapattu, Navoda, Cassinelli, Hamilton, Braegger, Christian, Pettifor, John M., Seth, Anju, Idris, Hafsatu Wasagu, Bhatia, Vijayalakshmi, Fu, Junfen, Goldberg, Gail, Sävendahl, Lars, Khadgawat, Rajesh, Pludowski, Pawel, Maddock, Jane, Hyppönen, Elina, Oduwole, Abiola, Frew, Emma, Aguiar, Magda, Tulchinsky, Ted, Butler, Gary, Högler, Wolfgang
Publicado no J Clin Endocrinol Metab (2016)