A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

por Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc’h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka
Publicado 2021

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

por Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka
Publicado 2021

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation

por Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Zalba-Jadraque, Laura, Fuster, José Luis, Bermúdez-Cortés, Mar, Galera-Miñarro, Ana María, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka
Publicado 2022

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

por Musri, Melina Mara, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka
Publicado 2023

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

por Hernández, Gonzalo, Ferrer-Cortès, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Martin Floor, Torres, Pau Marc Muñoz, Rodríguez, Ines Hernandez, Mínguez, Maria Àngels Ruiz, Kelleher, Nicholas J., Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricós, Georgina Gener, Giró, Eloi Cañamero, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sánchez, Mayka
Publicado 2021

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

por Hernández, Gonzalo, Romero-Cortadellas, Lídia, Ferrer-Cortès, Xènia, Venturi, Veronica, Dessy-Rodriguez, Mercedes, Olivella, Mireia, Husami, Ammar, de Soto, Concepción Pérez, Morales-Camacho, Rosario M., Villegas, Ana, González-Fernández, Fernando-Ataulfo, Morado, Marta, Kalfa, Theodosia A., Quintana-Bustamante, Oscar, Pérez-Montero, Santiago, Tornador, Cristian, Segovia, Jose-Carlos, Sánchez, Mayka
Publicado 2022