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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.
JAMA Neurol. 2019.
PMID: 30575854
Free PMC article.
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry.
Prinsen HCMT, Schiebergen-Bronkhorst BGM, Roeleveld MW, Jans JJM, de Sain-van der Velden MGM, Visser G, van Hasselt PM, Verhoeven-Duif NM.
Prinsen HCMT, et al. Among authors: schiebergen bronkhorst bgm.
J Inherit Metab Dis. 2016 Sep;39(5):651-660. doi: 10.1007/s10545-016-9935-z. Epub 2016 Apr 21.
J Inherit Metab Dis. 2016.
PMID: 27099181
Free PMC article.
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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM.
Willems AP, et al. Among authors: schiebergen bronkhorst bgm.
Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083. eCollection 2023.
Front Mol Biosci. 2023.
PMID: 38028537
Free PMC article.
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