Diagnosis and epidemiology of red blood cell enzyme disorders by Richard Van Wijk

Get full text

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report by Sissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, Jesper Petersen, Andreas Glenthøj

Get full text

The RoxyScan is a novel measurement of red blood cell deformability under oxidative and shear stress by Sandra K. Larkin, Carolina Hernández, Eduard J. van Beers, Richard van Wijk, Frans A. Kuypers

Get full text

Characterization of the −148C>T promoter polymorphism in PKLR by Karen M.K. de Vooght, Richard van Wijk, Annet C. van Wesel, Wouter W. van Solinge

Get full text

A Unique Monocyte Transcriptome Discriminates Sickle Cell Disease From Other Hereditary Hemolytic Anemias and Shows the Particular Importance of Lipid and Interferon Signaling by Annelies J. van Vuren, Stephanie van Straaten, Michal Mokry, Richard van Wijk, Eduard J. van Beers

Get full text

PB2509: RED BLOOD CELL PYRUVATE KINASE PROPERTIES IN SICKLE CELL DISEASE – OF MICE AND MEN by Marissa Traets, Brigitte van Oirschot, Charles Levine, Judith Jans, Minke Rab, Yu-Wei Chen, Richard Van Wijk

Get full text

Squeezing for Life – Properties of Red Blood Cell Deformability by Rick Huisjes, Anna Bogdanova, Wouter W. van Solinge, Raymond M. Schiffelers, Lars Kaestner, Lars Kaestner, Richard van Wijk

Get full text

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis by Karen M.K. de Vooght, Wouter W. van Solinge, Annet C. van Wesel, Sabina Kersting, Richard van Wijk

Get full text

Erythrocytosis associated with a novel missense mutation in the HIF2A gene by Richard van Wijk, Scott Sutherland, Annet C.W. Van Wesel, Eric G. Huizinga, Melanie J. Percy, Marc Bierings, Frank S. Lee

Get full text

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients by Annelies van Vuren, Bert van der Zwaag, Rick Huisjes, Nathalie Lak, Marc Bierings, Egbert Gerritsen, Eduard van Beers, Marije Bartels, Richard van Wijk

Get full text

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

Get full text

Effect of Cell Age and Membrane Rigidity on Red Blood Cell Shape in Capillary Flow by Mohammed Nouaman, Alexis Darras, Thomas John, Greta Simionato, Minke A. E. Rab, Richard van Wijk, Matthias W. Laschke, Lars Kaestner, Christian Wagner, Steffen M. Recktenwald

Get full text

P717: AG946, A PYRUVATE KINASE (PK) ACTIVATOR IMPROVES PK PROPERTIES AND RED BLOOD CELL (RBC) METABOLISM UPON EX VIVO TREATMENT OF RBCS FROM PATIENTS WITH MYELODYSPLASTIC SYNDROMES by Jonathan de Wilde, Titine Ruiter, Brigitte van Oirschot, Judith Jans, Lenny Dang, Megan Wind-Rotolo, Wouter van Solinge, Anna van Rhenen, Richard Van Wijk, Minke Rab

Get full text

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations by Carme 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

Get full text

PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis by Pedro L. Moura, Bethan R. Hawley, Johannes G.G. Dobbe, Geert J. Streekstra, Minke A.E. Rab, Paola Bianchi, Richard van Wijk, Ashley M. Toye, Timothy J. Satchwell

Get full text

PB2518: OPTIMIZING THE DETECTION OF 2,3- DIPHOSPHOGLYCERATE IN DRIED BLOOD SPOTS OF PATIENTS WITH SICKLE CELL DISEASE: UNTARGETED METABOLOMICS WITHIN THE GENOMED4ALL PROJECT by Sigrid van der Veen, Myrthe van Dijk, Bart Biemond, Marjon Cnossen, Raffaella Colombatti, Judith Jans, Maria Del Mar Mañú Pereira, Nanda Verhoeven, Richard Van Wijk, Eduard van Beers

Get full text

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency by Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Eduard J. van Beers, Edward E.S. Nieuwenhuis, Wouter W. van Solinge, Marije Bartels, Judith J. Jans, Richard van Wijk

Get full text

A Previously Unrecognized Ca2+-inhibited Nonselective Cation Channel in Red Blood Cells by Polina Petkova-Kirova, Laura Hertz, Asya Makhro, Jens Danielczok, Rick Huisjes, Esther Llaudet-Planas, Maria del Mar Mañú-Pereira, Joan-Luis Vives Corrons, Richard van Wijk, Anna Bogdanova, Lars Kaestner

Get full text

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

Get full text

Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity by Birgit van Dooijeweert, Melissa H. Broeks, Nanda M. Verhoeven-Duif, Wouter W. van Solinge, Eduard J. van Beers, Minke A. E. Rab, Edward E. S. Nieuwenhuis, Judith J. M. Jans, Marije Bartels, Richard van Wijk

Get full text