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

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

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

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

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

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Control of Systemic Iron Homeostasis by the 3’ Iron-Responsive Element of Divalent Metal Transporter 1 in Mice by Elisabeth Tybl, Hiromi Gunshin, Sanjay Gupta, Tomasa Barrientos, Michael Bonadonna, Ferran Celma Nos, Gael Palais, Zoubida Karim, Mayka Sanchez, Nancy C. Andrews, Bruno Galy

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A mutation in the iron-responsive element of <i>ALAS2</i> is a modifier of disease severity in a patient suffering from <i>CLPX</i> associated erythropoietic protoporphyria by Sarah Ducamp, Sara Luscieti, Xènia Ferrer-Cortès, Gaël Nicolas, Hana Manceau, Katell Peoc’h, Yvette Y. Yien, Caroline Kannengiesser, Laurent Gouya, Herve Puy, Mayka Sanchez

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

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Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases by Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez

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New Cases of Hypochromic Microcytic Anemia Due to Mutations in the <i>SLC11A2</i> Gene and Functional Characterization of the G75R Mutation by Lídia Romero-Cortadellas, Gonzalo Hernández, Xènia Ferrer-Cortès, Laura Zalba-Jadraque, José Luis Fuster, Mar Bermúdez-Cortés, Ana María Galera-Miñarro, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

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

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Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom. by Wen-Shyong Tzou, Ying Chu, Tzung-Yi Lin, Chin-Hwa Hu, Tun-Wen Pai, Hsin-Fu Liu, Han-Jia Lin, Ildeofonso Cases, Ana Rojas, Mayka Sanchez, Zong-Ye You, Ming-Wei Hsu

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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia by Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May

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

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The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper by Noémi B. A. Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria del Mar Mañú-Pereira, Elisa Fermo, Immacolata Andolfo, Barnaby Clark, Melanie Proven, Mayka Sanchez, Richard van Wijk, Bert van der Zwaag, Mark Layton, David Rees, Achille Iolascon, on behalf of the British Society for Haematology and the European Hematology Association

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Mutations in the <i>RACGAP1</i> gene cause autosomal recessive congenital dyserythropoietic anemia type III by Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Ana Villegas, Fernando-Ataulfo González-Fernández, Marta Morado, Theodosia A. Kalfa, Oscar Quintana-Bustamante, Santiago Pérez-Montero, Cristian Tornador, Jose-Carlos Segovia, Mayka Sánchez

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New Cases and Mutations in <i>SEC23B</i> Gene Causing Congenital Dyserythropoietic Anemia Type II by Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

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

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

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