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Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 5, p. 704, doi. 10.1177/0883073813505354
By:
- Baumgart, Anna;
- Spiczak, Sarah von;
- Verhoeven-Duif, Nanda M.;
- Møller, Rikke S.;
- Boor, Rainer;
- Muhle, Hiltrud;
- Jähn, Johanna A.;
- Klitten, Laura L.;
- Hjalgrim, Helle;
- Lindhout, Dick;
- Stephani, Ulrich;
- van Kempen, Marjan J. A.;
- Helbig, Ingo
Publication type:
Article
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 979, doi. 10.3390/ijms21030979
By:
- Haijes, Hanneke A.;
- van der Ham, Maria;
- Prinsen, Hubertus C.M.T.;
- Broeks, Melissa H.;
- van Hasselt, Peter M.;
- de Sain-van der Velden, Monique G.M.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J.M.
Publication type:
Article
Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes.
Published in:
Metabolites (2218-1989), 2024, v. 14, n. 5, p. 246, doi. 10.3390/metabo14050246
By:
- Meijer, Nils W. F.;
- Zwakenberg, Susan;
- Gerrits, Johan;
- Westland, Denise;
- Ardisasmita, Arif I.;
- Fuchs, Sabine A.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.;
- Zwartkruis, Fried J. T.
Publication type:
Article
Metabolic Alterations in NADSYN1-Deficient Cells.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 12, p. 1196, doi. 10.3390/metabo13121196
By:
- Meijer, Nils W. F.;
- Gerrits, Johan;
- Zwakenberg, Susan;
- Zwartkruis, Fried J. T.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.
Publication type:
Article
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Published in:
Metabolites (2218-1989), 2020, v. 10, n. 5, p. 206, doi. 10.3390/metabo10050206
By:
- Kerkhofs, Marten H. P. M.;
- Haijes, Hanneke A.;
- Willemsen, A. Marcel;
- van Gassen, Koen L. I.;
- van der Ham, Maria;
- Gerrits, Johan;
- de Sain-van der Velden, Monique G. M.;
- Prinsen, Hubertus C. M. T.;
- van Deutekom, Hanneke W. M.;
- van Hasselt, Peter M.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.
Publication type:
Article
Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 10, p. 236, doi. 10.3390/metabo9100236
By:
- Haijes, Hanneke A.;
- Willemse, Eline A.J.;
- Gerrits, Johan;
- van der Flier, Wiesje M.;
- Teunissen, Charlotte E.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J.M.
Publication type:
Article
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 1, p. 12, doi. 10.3390/metabo9010012
By:
- Haijes, Hanneke A.;
- Willemsen, Marcel;
- van der Ham, Maria;
- Gerrits, Johan;
- Pras-Raves, Mia L.;
- Prinsen, Hubertus C. M. T.;
- van Hasselt, Peter M.;
- de Sain-van der Velden, Monique G. M.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.
Publication type:
Article
Focal epilepsy with fear‐related behavior as primary presentation in Boerboel dogs.
Published in:
Journal of Veterinary Internal Medicine, 2019, v. 33, n. 2, p. 694, doi. 10.1111/jvim.15346
By:
- Stassen, Quirine E. M.;
- Grinwis, Guy C. M.;
- van Rhijn, Nieke C.;
- Beukers, Martjin;
- Verhoeven‐Duif, Nanda M.;
- Leegwater, Peter A. J.
Publication type:
Article
Increased bioavailable vitamin B<sub>6</sub> in field-grown transgenic cassava for dietary sufficiency.
Published in:
Nature Biotechnology, 2015, v. 33, n. 10, p. 1029, doi. 10.1038/nbt.3318
By:
- Li, Kuan-Te;
- Moulin, Michael;
- Mangel, Nathalie;
- Albersen, Monique;
- Verhoeven-Duif, Nanda M;
- Ma, Qiuxiang;
- Zhang, Peng;
- Fitzpatrick, Teresa B;
- Gruissem, Wilhelm;
- Vanderschuren, Hervé
Publication type:
Article
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
Published in:
British Journal of Haematology, 2021, v. 193, n. 6, p. 1185, doi. 10.1111/bjh.17524
By:
- Dooijeweert, Birgit;
- Broeks, Melissa H.;
- Beers, Eduard J.;
- Verhoeven‐Duif, Nanda M.;
- Solinge, Wouter W.;
- Nieuwenhuis, Edward E. S.;
- Jans, Judith J.;
- Wijk, Richard;
- Bartels, Marije
Publication type:
Article
Vitamin B6 in Plasma and Cerebrospinal Fluid of Children.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120972
By:
- Albersen, Monique;
- Bosma, Marjolein;
- Jans, Judith J. M.;
- Hofstede, Floris C.;
- van Hasselt, Peter M.;
- de Sain-van der Velden, Monique G. M.;
- Visser, Gepke;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model.
Published in:
PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054113
By:
- Albersen, Monique;
- Bosma, Marjolein;
- Knoers, Nine V. V. A. M.;
- de Ruiter, Berna H. B.;
- Diekman, Eugène F.;
- de Ruijter, Jessica;
- Visser, Wouter F.;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
FOXOs support the metabolic requirements of normal and tumor cells by promoting IDH1 expression.
Published in:
EMBO Reports, 2015, v. 16, n. 4, p. 456, doi. 10.15252/embr.201439096
By:
- Charitou, Paraskevi;
- Rodriguez‐Colman, Maria;
- Gerrits, Johan;
- Triest, Miranda;
- Groot Koerkamp, Marian;
- Hornsveld, Marten;
- Holstege, Frank;
- Verhoeven‐Duif, Nanda M;
- Burgering, Boudewijn MT
Publication type:
Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
By:
- Broeks, Melissa H.;
- Shamseldin, Hanan E.;
- Alhashem, Amal;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Alshedi, Tarfa;
- Alobaid, Iman;
- Zwartkruis, Fried;
- Westland, Denise;
- Fuchs, Sabine;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.;
- Alkuraya, Fowzan S.
Publication type:
Article
Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-01859-4
By:
- Korteling, Dorinde;
- Boks, Marco P.;
- Fiksinski, Ania M.;
- van Hoek, Ilja N.;
- Vorstman, Jacob A. S.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.;
- Zinkstok, Janneke R.
Publication type:
Article
D-Amino Acid Aberrations in Cerebrospinal Fluid and Plasma of Smokers.
Published in:
Neuropsychopharmacology, 2013, v. 38, n. 10, p. 2019, doi. 10.1038/npp.2013.103
By:
- Luykx, Jurjen J;
- Bakker, Steven C;
- van Boxmeer, Loes;
- Vinkers, Christiaan H;
- Smeenk, Hanne E;
- Visser, Wouter F;
- Verhoeven-Duif, Nanda M;
- Strengman, Eric;
- Buizer-Voskamp, Jacobine E;
- de Groene, Lizzy;
- van Dongen, Eric PA;
- Borgdorff, Paul;
- Bruins, Peter;
- de Koning, Tom J;
- Kahn, René S;
- Ophoff, Roel A
Publication type:
Article
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
Published in:
JAMA Neurology, 2019, v. 76, n. 3, p. 342, doi. 10.1001/jamaneurol.2018.2941
By:
- Rumping, Lynne;
- Büttner, Benjamin;
- Maier, Oliver;
- Rehmann, Holger;
- Lequin, Maarten;
- Schlump, Jan-Ulrich;
- Schmitt, Bernhard;
- Schiebergen-Bronkhorst, Birgit;
- Prinsen, Hubertus C. M. T.;
- Losa, Michele;
- Fingerhut, Ralph;
- Lemke, Johannes R.;
- Zwartkruis, Fried J. T.;
- Houwen, Roderick H. J.;
- Jans, Judith J. M.;
- Verhoeven-Duif, Nanda M.;
- van Hasselt, Peter M.;
- Jamra, Rami
Publication type:
Article
Survival and Psychomotor Development With Early Betaine Treatment in Patients With Severe Methylenetetrahydrofolate Reductase Deficiency.
Published in:
JAMA Neurology, 2014, v. 71, n. 2, p. 188, doi. 10.1001/jamaneurol.2013.4915
By:
- Diekman, Eugene F.;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.;
- Rovers, Maroeska M.;
- van Hasselt, Peter M.
Publication type:
Article
NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.
Published in:
PLoS ONE, 2020, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0219106
By:
- Weuring, Wout J.;
- Singh, Sakshi;
- Volkers, Linda;
- Rook, Martin B.;
- van 't Slot, Ruben H.;
- Bosma, Marjolein;
- Inserra, Marco;
- Vetter, Irina;
- Verhoeven-Duif, Nanda M.;
- Braun, Kees P. J.;
- Rivara, Mirko;
- Koeleman, Bobby P. C.
Publication type:
Article
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Published in:
2017
By:
- Lipstein, Noa;
- Verhoeven-Duif, Nanda M.;
- Michelassi, Francesco E.;
- Calloway, Nathaniel;
- van Hasselt, Peter M.;
- Pienkowska, Katarzyna;
- van Haaften, Gijs;
- van Haelst, Mieke M.;
- van Empelen, Ron;
- Cuppen, Inge;
- van Teeseling, Heleen C.;
- Evelein, Annemieke M. V.;
- Vorstman, Jacob A.;
- Thoms, Sven;
- Jahn, Olaf;
- Duran, Karen J.;
- Monroe, Glen R.;
- Ryan, Timothy A.;
- Taschenberger, Holger;
- Dittman, Jeremy S.
Publication type:
journal article
The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 353, doi. 10.1002/jimd.12450
By:
- Lehmann, Vivian;
- Schene, Imre F.;
- Ardisasmita, Arif I.;
- Liv, Nalan;
- Veenendaal, Tineke;
- Klumperman, Judith;
- van der Doef, Hubert P. J.;
- Verkade, Henkjan J.;
- Verstegen, Monique M. A.;
- van der Laan, Luc J. W.;
- Jans, Judith J. M.;
- Verhoeven‐Duif, Nanda M.;
- van Hasselt, Peter M.;
- Nieuwenhuis, Edward E. S.;
- Spee, Bart;
- Fuchs, Sabine A.
Publication type:
Article
Inborn disorders of the malate aspartate shuttle.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 792, doi. 10.1002/jimd.12402
By:
- Broeks, Melissa H.;
- Karnebeek, Clara D. M.;
- Wanders, Ronald J. A.;
- Jans, Judith J. M.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
By:
- Haijes, Hanneke A.;
- Molema, Femke;
- Langeveld, Mirjam;
- Janssen, Mirian C.;
- Bosch, Annet M.;
- Spronsen, Francjan;
- Mulder, Margot F.;
- Verhoeven‐Duif, Nanda M.;
- Jans, Judith J.M.;
- Ploeg, Ans T.;
- Wagenmakers, Margreet A.;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.;
- Vries, Maaike C.;
- Langendonk, Janneke G.;
- Williams, Monique;
- Hasselt, Peter M.
Publication type:
Article
Inborn errors of enzymes in glutamate metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 200, doi. 10.1002/jimd.12180
By:
- Rumping, Lynne;
- Vringer, Esmee;
- Houwen, Roderick H. J.;
- Hasselt, Peter M.;
- Jans, Judith J. M.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 730, doi. 10.1002/jimd.12129
By:
- Haijes, Hanneke A.;
- Jans, Judith J. M.;
- Tas, Simone Y.;
- Verhoeven‐Duif, Nanda M.;
- Hasselt, Peter M.
Publication type:
Article
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 745, doi. 10.1002/jimd.12128
By:
- Haijes, Hanneke A.;
- Hasselt, Peter M.;
- Jans, Judith J. M.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio‐Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Fatal cerebral edema associated with serine deficiency in CSF.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S181, doi. 10.1007/s10545-010-9067-9
By:
- Keularts, Irene M. L. W.;
- Leroy, Piet L. J. M.;
- Rubio-Gozalbo, Estela M.;
- Spaapen, Leo J. M.;
- Weber, Biene;
- Dorland, Bert;
- de Koning, Tom J.;
- Verhoeven-Duif, Nanda M.
Publication type:
Article
Phase I study of combined indomethacin and platinum-based chemotherapy to reduce platinum-induced fatty acids.
Published in:
2018
By:
- van der Velden, Daphne L.;
- Cirkel, Geert A.;
- Houthuijzen, Julia M.;
- van Werkhoven, E.;
- Roodhart, Jeanine M. L.;
- Daenen, Laura G. M.;
- Kaing, Sovann;
- Gerrits, Johan;
- Verhoeven-Duif, Nanda M.;
- Grootscholten, Cecile;
- Boot, Henk;
- Sessa, Cristisiana;
- Bloemendal, Haiko J.;
- De Vos, Filip Y.;
- Voest, Emile E.
Publication type:
journal article
Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 15, p. 2668, doi. 10.1093/hmg/ddac058
By:
- Chi, Wanhao;
- Iyengar, Atulya S R;
- Albersen, Monique;
- Bosma, Marjolein;
- Verhoeven-Duif, Nanda M;
- Wu, Chun-Fang;
- Zhuang, Xiaoxi
Publication type:
Article
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 19, p. 3266, doi. 10.1093/hmg/ddaa202
By:
- Al-Shekaili, Hilal H.;
- Petkau, Terri L.;
- Pena, Izabella;
- Lengyell, Tess C.;
- Verhoeven-Duif, Nanda M.;
- Ciapaite, Jolita;
- Bosma, Marjolein;
- van Faassen, Martijn;
- Kema, Ido P.;
- Horvath, Gabriella;
- Ross, Colin;
- Simpson, Elizabeth M.;
- Friedman, Jan M.;
- van Karnebeek, Clara;
- Leavitt, Blair R.
Publication type:
Article
Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 18, p. 3126, doi. 10.1093/hmg/ddz143
By:
- Chi, Wanhao;
- Iyengar, Atulya S R;
- Albersen, Monique;
- Bosma, Marjolein;
- Verhoeven-Duif, Nanda M;
- Wu, Chun-Fang;
- Zhuang, Xiaoxi
Publication type:
Article
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 6, p. 1, doi. 10.1002/pbc.30289
By:
- Matser, Yvette A. H.;
- Verly, Iedan R. N.;
- van der Ham, Maria;
- de Sain‐van der Velden, Monique G. M.;
- Verhoeven‐Duif, Nanda M.;
- Ash, Shifra;
- Cangemi, Giuliana;
- Barco, Sebastiano;
- Popovic, Maja Beck;
- van Kuilenburg, André B. P.;
- Tytgat, Godelieve A. M.;
- Cañete, Adela;
- Wieczorek, Aleksandra;
- Vicha, Ales;
- Alba, Amparo;
- Ryan, Anne L;
- Brichard, Bénédicte;
- Yalçın, Bilgehan;
- Martínez, Blanca;
- Márquez, Catalina
Publication type:
Article
The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.
Published in:
Genes, 2019, v. 10, n. 1, p. 8, doi. 10.3390/genes10010008
By:
- Olde Loohuis, Loes M.;
- Albersen, Monique;
- de Jong, Simone;
- Wu, Timothy;
- Luykx, Jurjen J.;
- Jans, Judith J. M.;
- Verhoeven-Duif, Nanda M.;
- Ophoff, Roel A.
Publication type:
Article

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