Haemochromatosis patients' research priorities: Towards an improved quality of life von Romero-Cortadellas, Lídia, Venturi, Veronica, Martín-Sánchez, Juan Carlos, Toska, Ketil, Prince, Dianne, Butzeck, Barbara, Porto, Graça, Milman, Nils Thorm, Committee, Hi/Efaph Survey, Sánchez, Mayka

Volltext

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

Volltext

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

Volltext

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

Volltext

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia von Tornador, Cristian, Sánchez-Prados, Edgar, Cadenas, Beatriz, Russo, Roberta, Venturi, Veronica, Andolfo, Immacolata, Hernández-Rodriguez, Ines, Iolascon, Achille, Sánchez, Mayka

Volltext

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome von Luscieti, Sara, Tolle, Gabriele, Aranda, Jessica, Campos, Carmen Benet, Risse, Frank, Morán, Érica, Muckenthaler, Martina U, Sánchez, Mayka

Volltext

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis von Hernandez, Gonzalo, Ferrer-Cortes, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Martin Floor, Torres, Pau Marc Munoz, Rodriguez, Ines Hernandez, Minguez, Maria Angels Ruiz, Kelleher, Nicholas J., Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricos, Georgina Gener, Giro, Eloi Canamero, Perez-Montero, Santiago, Tornador, Cristian, Villa-Freixa, Jordi, Sanchez, Mayka

Volltext

Iron refractory iron deficiency anemia von De Falco, Luigia, Sanchez, Mayka, Silvestri, Laura, Kannengiesser, Caroline, Muckenthaler, Martina U, Iolascon, Achille, Gouya, Laurent, Camaschella, Clara, Beaumont, Carole

Volltext

A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria von Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortes, Xenia, Nicolas, Gael, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

Volltext

S289: PPP1R1B BINDS IRON REGULATORY PROTEINS AND MODULATES IRON CELLULAR CONTENT von Calvo López, Laura, Hernández, Gonzalo, Celma Nos, Ferran, Sanchez, Mayka

Volltext

Functional consequences of transferrin receptor‐2 mutations causing hereditary hemochromatosis type 3 von Joshi, Ricky, Shvartsman, Maya, Morán, Erica, Lois, Sergi, Aranda, Jessica, Barqué, Anna, Cruz, Xavier, Bruguera, Miquel, Vagace, José Manuel, Gervasini, Guillermo, Sanz, Cristina, Sánchez, Mayka

Volltext

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis von Vila Cuenca, Marc, Marchi, Giacomo, Barque, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W., Piubelli, Chiara, Borges, Marina Dorigatti, de Albuquerque, Dulcineia Martins, Fertrin, Kleber Yotsumoto, Jove-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Diez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka

Volltext

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases von Celma Nos, Ferran, Hernandez, Gonzalo, Ferrer-Cortes, Xenia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begona, Fuster, Jose Luis, Bermudez Cortes, Mar, Perez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

Volltext

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 von Riley, Lisa G, Heeney, Matthew M, Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R, Zhou, Ronghao, Hale, Gregory A, Hilliard, Lee M, Kaplan, Joel A, Kwiatkowski, Janet L, Sieff, Colin A, Steensma, David P, Rennings, Alexander J, Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J, Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Yj, Bottomley, Sylvia S, Sanchez, Mayka, Swinkels, Dorine W, Christodoulou, John, Fleming, Mark D

Volltext

P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH von Romero‐Cortadellas, Lídia, Bañón, Aitor, Hernández, Gonzalo, Pérez‐Montero, Santiago, Tornador, Cristian, Alsina, Berta, Sanchez, Mayka

Volltext

P1496: TRANSFERRIN NON‐CODING VARIANTS CAUSE MRNA DESTABILISATION IN CONGENITAL HYPOTRANSFERRINEMIA von Ferrer, Xenia, Romero‐Cortadellas, Lídia, Diaz‐de‐Heredia, Cristina, Moser, Katja, Budde, Ilona Kleine, Sanchez, Mayka

Volltext

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases von Cadenas, Beatriz, Fita-Torró, Josep, Bermúdez-Cortés, Mar, Hernandez-Rodriguez, Inés, Fuster, José Luis, Llinares, María Esther, Galera, Ana María, Romero, Julia Lee, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

Volltext

Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia von Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta, Sanchez, Mayka, Busti, Fabiana, Swinkels, Dorine, Aguilar Martinez, Patricia, Bou‐Fakhredin, Rayan, Muckenthaler, Martina U., Unal, Sule, Porto, Graça, Ganz, Tomas, Kattamis, Antonis, De Franceschi, Lucia, Cappellini, Maria Domenica, Munro, Malcolm G., Taher, Ali

Volltext

Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component von Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Venturi, Veronica, Olivella, Mireia, Pérez de Soto, Concepción, Morales-Camacho, Rosario M., Villegas, Ana, Gonzalez-Fernandez, F. Ataulfo, Morado, Marta, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

Volltext

The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper von Roy, Noémi B. A., Da Costa, Lydie, Russo, Roberta, Bianchi, Paola, Mar Mañú‐Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille

Volltext