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Journal of Magnetic Resonance (San Diego, Calif. : 1997)|October 25, 2019
First hyperpolarized [2-13C]pyruvate MR studies of human brain metabolismBrian T Chung, Hsin-Yu Chen, Jeremy Gordon, et al.
Magnetic Resonance in Medicine|March 5, 2024
Current methods for hyperpolarized [1-13C]pyruvate MRI human studiesPeder E Z Larson, Jenna M L Bernard, James A Bankson, et al.
Molecular Genetics and Metabolism|October 2, 2012
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trialsClara D M van Karnebeek, Hans Hartmann, Sravan Jaggumantri, et al.
Magnetic Resonance in Medicine|June 6, 2020
Tensor image enhancement and optimal multichannel receiver combination analyses for human hyperpolarized 13 C MRSIHsin-Yu Chen, Adam W Autry, Jeffrey R Brender, et al.
Elife|July 12, 2017
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairmentCemre Celen, Jen-Chieh Chuang, Xin Luo, et al.
Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.
Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Neurology|August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent EpilepsyCurtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.
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