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2020 2
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Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.
Riviere-Cazaux C, Lacey JM, Carlstrom LP, Laxen WJ, Munoz-Casabella A, Hoplin MD, Ikram S, Zubair AB, Andersen KM, Warrington AE, Decker PA, Kaufmann TJ, Campian JL, Eckel-Passow JE, Kizilbash SH, Tortorelli S, Burns TC. Riviere-Cazaux C, et al. Among authors: laxen wj. Neurooncol Adv. 2023 May 11;5(1):vdad061. doi: 10.1093/noajnl/vdad061. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 37313502 Free PMC article. No abstract available.
Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas.
Riviere-Cazaux C, Lacey JM, Carlstrom LP, Laxen WJ, Munoz-Casabella A, Hoplin MD, Ikram S, Zubair AB, Andersen KM, Warrington AE, Decker PA, Kaufmann TJ, Campian JL, Eckel-Passow JE, Kizilbash SH, Tortorelli S, Burns TC. Riviere-Cazaux C, et al. Among authors: laxen wj. medRxiv [Preprint]. 2023 Mar 2:2023.03.01.23286412. doi: 10.1101/2023.03.01.23286412. medRxiv. 2023. PMID: 36909488 Free PMC article. Updated. Preprint.
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality.
Sabharwal A, Wishman MD, Cervera RL, Serres MR, Anderson JL, Holmberg SR, Kar B, Treichel AJ, Ichino N, Liu W, Yang J, Ding Y, Deng Y, Lacey JM, Laxen WJ, Loken PR, Oglesbee D, Farber SA, Clark KJ, Xu X, Ekker SC. Sabharwal A, et al. Among authors: laxen wj. Elife. 2022 Nov 21;11:e65488. doi: 10.7554/eLife.65488. Elife. 2022. PMID: 36408801 Free PMC article.
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S. Guenzel AJ, et al. Among authors: laxen w. JIMD Rep. 2021 Apr 5;60(1):67-74. doi: 10.1002/jmd2.12217. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258142 Free PMC article.