Search Results - Richard van Wijk
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A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies by Arjan Buijs, Pino J. Poddighe, Richard van Wijk, Wouter W. van Solinge, Eric Borst, Leo F. Verdonck, Anton Hagenbeek, P. Pearson, Henk M. Lokhorst
Published 2001Artigo -
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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations by Carlos Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor
Published 2016Artigo -
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The Complexity of Genotype‐Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients by Annelies J. van Vuren, Bert van der Zwaag, Rick Huisjes, Nathalie S.M. Lak, Marc Bierings, Egbert J.A. Gerritsen, Eduard J. van Beers, Marije Bartels, Richard van Wijk
Published 2019Artigo -
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The variable manifestations of disease in pyruvate kinase deficiency and their management by Hanny Al‐Samkari, Eduard J. van Beers, Kevin H.M. Kuo, Wilma Barcellini, Paola Bianchi, Andreas Glenthøj, María del Mar Mañú Pereira, Richard van Wijk, Bertil Glader, Rachael F. Grace
Published 2020Artigo -
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Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis by Melanie J. Percy, Philip Beer, Gavin Campbell, A W Dekker, Anthony R. Green, David Oscier, Margaret Rainey, Richard van Wijk, Marion Wood, Terence R.J. Lappin, Mary Frances McMullin, Frank S. Lee
Published 2008Artigo -
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Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia? by Laura Hertz, Rick Huisjes, Esther Llaudet‐Planas, Polina Petkova‐Kirova, Asya Makhro, Jens Danielczok, Stéphane Égée, María del Mar Mañú‐Pereira, Richard van Wijk, Joan‐Lluís Vives Corrons, Anna Bogdanova, Lars Kaestner
Published 2017Artigo -
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A role for activated endothelial cells in red blood cell clearance: implications for vasopathology by Marcel H.A.M. Fens, Richard van Wijk, Gerda Andringa, Karlijn L. van Rooijen, Hilde M. Dijstelbloem, Jan T. Rasmussen, Karen M. K. de Vooght, Raymond M. Schiffelers, Sandrine Gaillard, Wouter W. van Solinge
Published 2011Artigo -
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Red Cell Properties after Different Modes of Blood Transportation by Asya Makhro, Rick Huisjes, Liesbeth P. Verhagen, María del Mar Mañú‐Pereira, Esther Llaudet‐Planas, Polina Petkova‐Kirova, Jue Wang, Hermann Eichler, Anna Bogdanova, Richard van Wijk, Joan‐Lluís Vives Corrons, Lars Kaestner
Published 2016Artigo -
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AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes by Minke A.E. Rab, Brigitte A. van Oirschot, Penelope A. Kosinski, Jeffrey Hixon, Kendall Johnson, Victor Chubukov, Lenny Dang, Gerard Pasterkamp, Stephanie van Straaten, Wouter W. van Solinge, Eduard J. van Beers, Charles Kung, Richard van Wijk
Published 2020Artigo -
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Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis by Sebastiaan J. Vastert, Richard van Wijk, Leila Emma D’Urbano, Karen M. K. de Vooght, Wilco de Jager, Angelo Ravelli, Silvia Magni‐Manzoni, Antonella Insalaco, Elisabetta Cortis, Wouter W. van Solinge, Berent J. Prakken, Nico Wulffraat, Fabrizio De Benedetti, Wietse Kuis
Published 2009Artigo -
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The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis by Daan Vorselen, Susan M. van Dommelen, Raya Sorkin, Melissa C. Piontek, Jürgen Schiller, Sander T. Döpp, Sander A. A. Kooijmans, Brigitte A. van Oirschot, Birgitta Versluijs, Marc Bierings, Richard van Wijk, Raymond M. Schiffelers, Gijs J. L. Wuite, Wouter H. Roos
Published 2018Artigo -
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Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway by Harry F.G. Heijnen, Richard van Wijk, Tamara C. Pereboom, Yvonne J. Goos, Cor W. Seinen, Brigitte A. van Oirschot, Rowie van Dooren, Marc Gastou, Rachel H. Giles, Wouter W. van Solinge, Taco W. Kuijpers, Hanna T. Gazda, Marc Bierings, Lydie Da Costa, Alyson W. MacInnes
Published 2014Artigo -
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Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency by Stephanie van Straaten, Marc Bierings, Paola Bianchi, Kensuke Akiyoshi, Hitoshi Kanno, Isabel Badell, Jing Chen, Xiaohang Huang, Eduard J. van Beers, Supachai Ekwattanakit, Tayfun Güngör, Wijnanda Adriana Kors, Frans J. Smiers, Reinier Raymakers, Lucrecia Yáñez, Julián Sevilla, Wouter W. van Solinge, José C. Segovia, Richard van Wijk
Published 2017Artigo -
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One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study by Myrthe J. van Dijk, Minke A.E. Rab, Brigitte A. van Oirschot, Jennifer Bos, Cleo Derichs, Anita W. Rijneveld, Marjon H. Cnossen, Erfan Nur, Bart J. Biemond, Marije Bartels, Judith Jans, Wouter W. van Solinge, Roger E. G. Schutgens, Richard van Wijk, Eduard J. van Beers
Published 2023Artigo
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Pyruvate kinase deficiency
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