Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1? von Minenkova, Anastasia, Jansen, Erwin E. W., Cameron, Jessie, Barto, Rob, Hurd, Thomas, MacNeil, Lauren, Salomons, Gajja S., Mercimek-Andrews, Saadet

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IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo von Bralten, Linda B. C., Kloosterhof, Nanne K., Balvers, Rutger, Sacchetti, Andrea, Lapre, Lariesa, Lamfers, Martine, Leenstra, Sieger, de Jonge, Hugo, Kros, Johan M., Jansen, Erwin E. W., Struys, Eduard A., Jakobs, Cornelis, Salomons, Gajja S., Diks, Sander H., Peppelenbosch, Maikel, Kremer, Andreas, Hoogenraad, Casper C., Sillevis Smitt, Peter A. E., French, Pim J.

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In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells von Vogel, Kara R, Ainslie, Garrett R, Jansen, Erwin E, Salomons, Gajja S, Roullet, Jean-Baptiste, Gibson, K Michael

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A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model von Wang, Fang, Travins, Jeremy, Lin, Zhizhong, Si, Yaguang, Chen, Yue, Powe, Josh, Murray, Stuart, Zhu, Dongwei, Artin, Erin, Gross, Stefan, Santiago, Stephanie, Steadman, Mya, Kernytsky, Andrew, Straley, Kimberly, Lu, Chenming, Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Salomons, Gajja S., David, Muriel D., Quivoron, Cyril, Penard-Lacronique, Virginie, Regan, Karen S., Liu, Wei, Dang, Lenny, Yang, Hua, Silverman, Lee, Agresta, Samuel, Dorsch, Marion, Biller, Scott, Yen, Katharine, Cang, Yong, Su, Shin-San Michael, Jin, Shengfang

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Mutant IDH1 promotes leukemogenesis in vivo and can be specifically targeted in human AML von Chaturvedi, Anuhar, Araujo Cruz, Michelle Maria, Jyotsana, Nidhi, Sharma, Amit, Yun, Haiyang, Görlich, Kerstin, Wichmann, Martin, Schwarzer, Adrian, Preller, Matthias, Thol, Felicitas, Meyer, Johann, Haemmerle, Reinhard, Struys, Eduard A., Jansen, Erwin E., Modlich, Ute, Li, Zhixiong, Sly, Laura M., Geffers, Robert, Lindner, Robert, Manstein, Dietmar J., Lehmann, Ulrich, Krauter, Jürgen, Ganser, Arnold, Heuser, Michael

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Intracellular s-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC von CASTRO, Rita, RIVERA, Isabel, MARTINS, Carla, STRUYS, Eduard A, JANSEN, Erwin E. W, CLODE, Nuno, GRACA, Luis M, BLOM, Henk J, JAKOBS, Cornelis, DE ALMEIDA, Isabel Tavares

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Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects von Walters, Dana C., Jansen, Erwin E. W., Ainslie, Garrett R., Salomons, Gajja S., Brown, Madalyn N., Schmidt, Michelle A., Roullet, Jean‐Baptiste, Gibson, K. M.

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Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response von Ralser, Markus, Wamelink, Mirjam M C, Latkolik, Simone, Jansen, Erwin E W, Lehrach, Hans, Jakobs, Cornelis

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Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity von Walters, Dana C., Jansen, Erwin E.W., Salomons, Gajja S., Arning, Erland, Ashcraft, Paula, Bottiglieri, Teodoro, Roullet, Jean-Baptiste, Gibson, K. Michael

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

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Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues von Walters, Dana C., Arning, Erland, Bottiglieri, Teodoro, Jansen, Erwin E.W., Salomons, Gajja S., Brown, Madalyn N., Schmidt, Michelle A., Ainslie, Garrett R., Roullet, Jean-Baptiste, Gibson, K. Michael

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Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD) von Skvorak, Kristen J., Hager, Elizabeth J., Arning, Erland, Bottiglieri, Teodoro, Paul, Harbhajan S., Strom, Stephen C., Homanics, Gregg E., Sun, Qin, Jansen, Erwin E.W., Jakobs, Cornelis, Zinnanti, William J., Gibson, K. Michael

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Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene von Wamelink, Mirjam M.C, Struys, Eduard A, Jansen, Erwin E.W, Levtchenko, Elena N, Zijlstra, Fokje S.M, Engelke, Udo, Blom, Henk J, Jakobs, Cornelis, Wevers, Ron A

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Pre-analytical stability of novel cerebrospinal fluid biomarkers von Willemse, Eline A.J., Vermeiren, Yannick, Garcia-Ayllon, Maria-Salud, Bridel, Claire, De Deyn, Peter P., Engelborghs, Sebastiaan, van der Flier, Wiesje M., Jansen, Erwin E.W., Lopez-Font, Inmaculada B., Mendes, Vera, Manadas, Bruno, de Roeck, Naomi, Saez-Valero, Javier, Struys, Eduard A., Vanmechelen, Eugeen, Andreasson, Ulf, Teunissen, Charlotte E.

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D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants von Pop, Ana, Struys, Eduard A., Jansen, Erwin E. W., Fernandez, Matilde R., Kanhai, Warsha A., Dooren, Silvy J. M., Ozturk, Senay, Oostendorp, Justin, Lennertz, Pascal, Kranendijk, Martijn, Knaap, Marjo S., Gibson, K. Michael, Schaftingen, Emile, Salomons, Gajja S.

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Measurement of Urinary D- and L-2-Hydroxyglutarate Enantiomers by Stable-Isotope-Dilution Liquid Chromatography-Tandem Mass Spectrometry after Derivatization with Diacetyl-L-Tartar... von Struys, Eduard A, Jansen, Erwin E.W, Verhoeven, Nanda M, Jakobs, Cornelis

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Torin 1 partially corrects vigabatrin‐induced mitochondrial increase in mouse von Vogel, Kara R., Ainslie, Garrett R., Jansen, Erwin E. W., Salomons, Gajja S., Gibson, K. Michael

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The transmethylation cycle in the brain of Alzheimer patients von Mulder, Cees, Schoonenboom, Niki S.M., Jansen, Erwin E.W., Verhoeven, Nanda M., van Kamp, Gerard J., Jakobs, Cornelis, Scheltens, Philip

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The potential of fecal microbiota and amino acids to detect and monitor patients with adenoma von Bosch, Sofie, Acharjee, Animesh, Quraishi, Mohammed N, Rojas, Patricia, Bakkali, Abdellatif, Jansen, Erwin EW, Brizzio Brentar, Marina, Kuijvenhoven, Johan, Stokkers, Pieter, Struys, Eduard, Beggs, Andrew D, Gkoutos, Georgios V, de Meij, Tim GJ, de Boer, Nanne KH

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Metabolism of γ-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase von Struys, Eduard A., Verhoeven, Nanda M., Jansen, Erwin E.W., ten Brink, Herman J., Gupta, Maneesh, Burlingame, Terry G., Quang, Lawrence S., Maher, Timothy, Rinaldo, Piero, Snead, O. Carter, Goodwin, Amy K., Weerts, Elise M., Brown, P. Rand, Murphy, Tonya C., Picklo, Mathew J., Jakobs, Cornelius, Gibson, K. Michael

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