Canlyniadau Chwilio - Wamelink, Mirjam

A haploproficient interaction of the transaldolase paralogue NQM1 with the transcription factor VHR1 affects stationary phase survival and oxidative stress resistance gan Michel, Steve, Keller, Markus A, Wamelink, Mirjam MC, Ralser, Markus

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A catabolic block does not sufficiently explain how 2-deoxy-d-glucose inhibits cell growth gan Ralser, Markus, Wamelink, Mirjam M., Struys, Eduard A., Joppich, Christian, Krobitsch, Sylvia, Jakobs, Cornelis, Lehrach, Hans

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Pulmonary Manifestations in a Patient with Transaldolase Deficiency gan Jassim, Nada, AlGhaihab, Mohammed, Saleh, Suhail Al, Alfadhel, Majid, Wamelink, Mirjam M. C., Eyaid, Wafaa

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Clinical and molecular characteristics of two transaldolase-deficient patients gan Tylki-Szymanska, Anna, Wamelink, Mirjam M. C., Stradomska, Teresa J., Salomons, Gajja S., Taybert, Joanna, Dąbrowska-Leonik, Nel, Rurarz, Małgorzata

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Human iPSCs harbor homoplasmic and heteroplasmic mitochondrial DNA mutations while maintaining hESC-like metabolic reprogramming gan Prigione, Alessandro, Lichtner, Björn, Kuhl, Heiner, Struys, Eduard A., Wamelink, Mirjam, Lehrach, Hans, Ralser, Markus, Timmermann, Bernd, Adjaye, James

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Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis gan Berends, Lisette M., Struys, Eduard A., Roos, Birthe, Holwerda, Ulbe, Jansen, Erwin E. W., Salomons, Gajja S., Wamelink, Mirjam M. C.

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Pyruvate Kinase Triggers a Metabolic Feedback Loop that Controls Redox Metabolism in Respiring Cells gan Grüning, Nana-Maria, Rinnerthaler, Mark, Bluemlein, Katharina, Mülleder, Michael, Wamelink, Mirjam M.C., Lehrach, Hans, Jakobs, Cornelis, Breitenbach, Michael, Ralser, Markus

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Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis gan Bluemlein, Katharina, Glückmann, Matthias, Grüning, Nana-Maria, Feichtinger, René, Krüger, Antje, Wamelink, Mirjam, Lehrach, Hans, Tate, Stephen, Neureiter, Daniel, Kofler, Barbara, Ralser, Markus

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Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress gan Ralser, Markus, Wamelink, Mirjam M, Kowald, Axel, Gerisch, Birgit, Heeren, Gino, Struys, Eduard A, Klipp, Edda, Jakobs, Cornelis, Breitenbach, Michael, Lehrach, Hans, Krobitsch, Sylvia

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Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency gan LeDuc, Charles A., Crouch, Elizabeth E., Wilson, Ashley, Lefkowitch, Jay, Wamelink, Mirjam M. C., Jakobs, Cornelis, Salomons, Gajja S., Sun, Xiaoyun, Shen, Yufeng, Chung, Wendy K.

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

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

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Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency gan Engelke, Udo F.H., Zijlstra, Fokje S.M., Mochel, Fanny, Valayannopoulos, Vassili, Rabier, Daniel, Kluijtmans, Leo A.J., Perl, András, Verhoeven-Duif, Nanda M., de Lonlay, Pascale, Wamelink, Mirjam M.C., Jakobs, Cornelis, Morava, Éva, Wevers, Ron A.

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

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects gan Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.

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DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering gan Milanese, Chiara, Bombardieri, Cíntia R., Sepe, Sara, Barnhoorn, Sander, Payán-Goméz, César, Caruso, Donatella, Audano, Matteo, Pedretti, Silvia, Vermeij, Wilbert P., Brandt, Renata M. C., Gyenis, Akos, Wamelink, Mirjam M., de Wit, Annelieke S., Janssens, Roel C., Leen, René, van Kuilenburg, André B. P., Mitro, Nico, Hoeijmakers, Jan H. J., Mastroberardino, Pier G.

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

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