Clinical and molecular characteristics of two transaldolase-deficient patients

por Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata
Publicado 2014

Pyruvate Kinase Triggers a Metabolic Feedback Loop that Controls Redox Metabolism in Respiring Cells

por Grüning, Nana-Maria, Rinnerthaler, Mark, Bluemlein, Katharina, Mülleder, Michael, Wamelink, Mirjam M.C., Lehrach, Hans, Jakobs, Cornelis, Breitenbach, Michael, Ralser, Markus
Publicado 2011

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

por Beerepoot, Shanice, Heijst, Hans, Roos, Birthe, Wamelink, Mirjam M C, Boelens, Jaap Jan, Lindemans, Caroline A, van Hasselt, Peter M, Jacobs, Edwin H, van der Knaap, Marjo S, Teunissen, Charlotte E, Wolf, Nicole I
Publicado 2021

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

por Rumping, Lynne, Pouwels, Petra J. W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M. C., Waisfisz, Quinten, Jans, Judith J. M., Prinsen, Hubertus C. M. T., van de Kamp, Jiddeke M., van Hasselt, Peter M.
Publicado 2023

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

por Wamelink, Mirjam M. C., Ramos, Ruben J. J. F., van den Elzen, Annette P. M., Ruijter, George J. G., Bonte, Ramon, Diogo, Luisa, Garcia, Paula, Neves, Nelson, Nota, Benjamin, Haschemi, Arvand, Tavares de Almeida, Isabel, Salomons, Gajja S.
Publicado 2015

The return of metabolism: biochemistry and physiology of the pentose phosphate pathway

por Stincone, Anna, Prigione, Alessandro, Cramer, Thorsten, Wamelink, Mirjam M. C., Campbell, Kate, Cheung, Eric, Olin-Sandoval, Viridiana, Grüning, Nana-Maria, Krüger, Antje, Alam, Mohammad Tauqeer, Keller, Markus A., Breitenbach, Michael, Brindle, Kevin M., Rabinowitz, Joshua D., Ralser, Markus
Publicado 2014

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

por Ferreira, Elise A., Buijs, Mark J. N., Wijngaard, Robin, Daams, Joost G., Datema, Mareen R., Engelen, Marc, van Karnebeek, Clara D. M., Oud, Machteld M., Vaz, Frédéric M., Wamelink, Mirjam M. C., van der Crabben, Saskia N., Langeveld, Mirjam
Publicado 2023

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

por van de Kamp, Jiddeke M., Bökenkamp, Arend, Smith, Desiree E. C., Wamelink, Mirjam M. C., Jansen, Erwin E. W., Struys, Eduard A., Waisfisz, Quinten, Verkleij, Marieke, Hartmann, Michaela F., Wang, Rong, Wudy, Stefan A., Paganini, Chiara, Rossi, Antonio, Finken, Martijn J. J.
Publicado 2022

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

por Kuijpers, Taco W., de Vries, Andrica C.H., van Leeuwen, Ester M., Ermens, A.(Ton) A.M., de Pont, Saskia, Smith, Desirée E.C., Wamelink, Mirjam M.C., Mensenkamp, Arjen R., Nelen, Marcel R., Lango Allen, Hana, Pals, Steven T., Beverloo, Berna H.B., Huidekoper, Hidde H., Wagner, Anja
Publicado 2022

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

por Coene, Karlien L. M., Timmer, Corrie, Goorden, Susan M. I., ten Hoedt, Amber E., Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rennings, Alexander J. M., Prinsen, Hubertus C. M. T., Wamelink, Mirjam M. C., Ruijter, George J. G., Körver‐Keularts, Irene M. L. W., Heiner‐Fokkema, M. Rebecca, van Spronsen, Francjan J., Hollak, Carla E., Vaz, Frédéric M., Bosch, Annet M., Huigen, Marleen C. D. G.
Publicado 2020