Resultats de la cerca - Nanda M. Verhoeven‐Duif

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  1. 1
    Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism

    Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism per Hannah M. German, Jolita Čiapaitė, Nanda M. Verhoeven‐Duif, Judith Jans

    Publicat 2025
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  2. 2
    Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

    Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies per Hanneke A. Haijes, Peter M. van Hasselt, Judith Jans, Nanda M. Verhoeven‐Duif

    Publicat 2019
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  3. 3
    Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

    Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications per Hanneke A. Haijes, Judith Jans, Simone Y. Tas, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt

    Publicat 2019
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  4. 4
    Inborn disorders of the malate aspartate shuttle

    Inborn disorders of the malate aspartate shuttle per Melissa H. Broeks, Clara D.M. van Karnebeek, Ronald J. A. Wanders, Judith Jans, Nanda M. Verhoeven‐Duif

    Publicat 2021
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  5. 5
    <scp>FOXO</scp> s support the metabolic requirements of normal and tumor cells by promoting <scp>IDH</scp> 1 expression

    <scp>FOXO</scp> s support the metabolic requirements of normal and tumor cells by promoting <scp>IDH</scp> 1 expression per Paraskevi Charitou, Maria J. Rodríguez Colman, Johan Gerrits, Miranda van Triest, Marian J.A. Groot Koerkamp, Marten Hornsveld, Frank C. P. Holstege, Nanda M. Verhoeven‐Duif, Boudewijn Burgering

    Publicat 2015
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  6. 6
    Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone

    Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone per Fatiha Bendadi, Tom J. de Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. de Sain, Nanda M. Verhoeven‐Duif, Gerben Sinnema, Francjan J. van Spronsen, Peter M. van Hasselt

    Publicat 2013
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  7. 7
    The malate-aspartate shuttle is important for de novo serine biosynthesis

    The malate-aspartate shuttle is important for de novo serine biosynthesis per Melissa H. Broeks, Nils W. F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Čiapaitė, Clara D.M. van Karnebeek, Ronald J. A. Wanders, Fried Zwartkruis, Nanda M. Verhoeven‐Duif, Judith Jans

    Publicat 2023
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  8. 8
    Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

    Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma per Hanneke A. Haijes, Marcel Willemsen, Maria van der Ham, Johan Gerrits, Mia L. Pras‐Raves, Hubertus C.M.T. Prinsen, Peter M. van Hasselt, Monique G.M. de Sain‐van der Velden, Nanda M. Verhoeven‐Duif, Judith Jans

    Publicat 2019
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  9. 9
    Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice

    Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice per Vittoria Massafra, Alexandra Milona, Harmjan R. Vos, Rúben J. Ramos, Johan Gerrits, Ellen C.L. Willemsen, José M. Ramos Pittol, Noortje Ijssennagger, Martin Houweling, Hubertus C.M.T. Prinsen, Nanda M. Verhoeven‐Duif, Boudewijn Burgering, Saskia W. C. van Mil

    Publicat 2017
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  10. 10
    Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

    Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency per Izabella A. Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon L. Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A. Dyment, Clara van Karnebeek, Nanda M. Verhoeven‐Duif, Tuan V. Bui, Kym M. Boycott, Marc Ekker, Alex MacKenzie

    Publicat 2017
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  11. 11
    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy per Lynne Rumping, Benjamin Büttner, Oliver Maier, Holger Rehmann, Maarten H. Lequin, Jan-Ulrich Schlump, Bernhard Schmitt, Birgit G. M. Schiebergen-Bronkhorst, Hubertus C.M.T. Prinsen, M. Losa, Ralph Fingerhut, Johannes R. Lemke, Fried Zwartkruis, Roderick H.J. Houwen, Judith Jans, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt, Rami Abou Jamra

    Publicat 2018
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  12. 12
    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability per Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Tamar I. de Vries, Karen Duran, Jasper J. van der Smagt, Paulien A. Terhal, Peter M. van Hasselt, Hester Y. Kroes, Nanda M. Verhoeven‐Duif, Isaäc J. Nijman, Ellen C. Carbo, Koen L.I. van Gassen, Nine Knoers, Anke M. Hövels, Mieke M. van Haelst, Gepke Visser, Gijs van Haaften

    Publicat 2016
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  13. 13
    Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

    Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder per Noa Lipstein, Nanda M. Verhoeven‐Duif, Francesco Michelassi, Nathaniel Calloway, Peter M. van Hasselt, Katarzyna Pienkowska, Gijs van Haaften, Mieke M. van Haelst, R. van Empelen, Inge Cuppen, Heleen C. van Teeseling, Annemieke M. V. Evelein, Jacob Vorstman, Sven Thoms, Olaf Jahn, Karen Duran, Glen R. Monroe, Timothy A. Ryan, Holger Taschenberger, Jeremy S. Dittman, Jeong-Seop Rhee, Gepke Visser, Judith Jans, Nils Brose

    Publicat 2017
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  14. 14
    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization per Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, Jos P.N. Ruiter, Marjolein Turkenburg, Maartje J. Geerlings, Karen Duran, Magdaléna Harakaľová, Bert van der Zwaag, Ardeshir A. Monavari, İlyas Okur, Mark Sharrard, Maureen Cleary, N.H. O’Connell, Valerie Walker, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Gepke Visser, Roderick H.J. Houwen, Jasper J. van der Smagt, Nanda M. Verhoeven‐Duif, Ronald J. A. Wanders, Gijs van Haaften

    Publicat 2014
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  15. 15
    Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome

    Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome per Arthur W. D. Edridge, Gasim Abd‐Elfarag, Martin Deijs, Melissa H. Broeks, Cosimo Cristella, Brandon Sie, Frédéric M. Vaz, Judith Jans, Job C. J. Calis, Hans Verhoef, Ayşe Y. Demir, Sven Poppert, Beatrice Nickel, Alje P. van Dam, Boy Sebit, Maarten J. Titulaer, Jaco J. Verweij, Menno D. de Jong, Tom van Gool, Brian Faragher, Nanda M. Verhoeven‐Duif, Stephen J. Elledge, Lia van der Hoek, Michaël Boele van Hensbroek

    Publicat 2023
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  16. 16
    Identification of human D lactate dehydrogenase deficiency

    Identification of human D lactate dehydrogenase deficiency per Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L.I. van Gassen, M. van Aalderen, Bart G.P. Koot, M. van Oostendorp, Marinus Durán, Gepke Visser, Tom J. de Koning, Francesco Calı̀, Paolo Bosco, Karin Geleijns, Monique G.M. de Sain‐van der Velden, Nine Knoers, Jeroen Bakkers, Nanda M. Verhoeven‐Duif, Gijs van Haaften, Judith Jans

    Publicat 2019
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  17. 17
    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency per Curtis R. Coughlin, Laura A. Tseng, José E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhaş, Peter T. Clayton, Anibh M. Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma Footitt, Sídney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, R. Lilje, Nicola Longo, Roelineke J. Lunsing, Philippa B. Mills, Maria Papadopoulou, Phillip L. Pearl, Flávia Piazzon, Barbara Plecko, Arushi Gahlot Saini, Saikat Santra, Damayanti Rusli Sjarif, Sylvia Stöckler‐Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven‐Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara van Karnebeek

    Publicat 2020
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  18. 18
    Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

    Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy per Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand‐Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos P.N. Ruiter, Jolita Čiapaitė, Leo A. J. Kluijtmans, Michèl A.A.P. Willemsen, Judith Jans, Colin J.D. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Maha S. Zaki, Ron A. Wevers

    Publicat 2019
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  19. 19
    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights per Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy, Scott Demarest, Yann Roussel, Jolita Čiapaitė, Carlo W.T. van Roermund, Kristin D. Kernohan, Ceres Kosuta, Kevin Ban, Yoko Itō, Skye McBride, Khalid Al‐Thihli, Rana Abdelrahim, Roshan Koul, Amna Al‐Futaisi, Charlotte A. Haaxma, Heather E. Olson, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, M. E. Boon, M. Rebecca Heiner‐Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A. Koolen, Erik-Jan Kamsteeg, Britt I. Drögemöller, Colin J.D. Ross, Jacek Majewski, Megan T. Cho, Amber Begtrup, Wyeth W. Wasserman, Tuan V. Bui, Elise Brimble, Sara Violante, Sander M. Houten, Ron A. Wevers, Martijn van Faassen, Ido P. Kema, Nathalie Lepage, Matthew A. Lines, David A. Dyment, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Marc Ekker, Kym M. Boycott, Jan M. Friedman, Izabella A. Pena, Clara D.M. van Karnebeek

    Publicat 2018
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