Jansen E - Search Results

1

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Kirby T, et al. Among authors: jansen e. Metab Brain Dis. 2020 Jun;35(5):849-850. doi: 10.1007/s11011-020-00569-4. Metab Brain Dis. 2020. PMID: 32306187 Free PMC article.

2

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Kirby T, et al. Among authors: jansen e. Metab Brain Dis. 2020 Apr;35(4):601-614. doi: 10.1007/s11011-020-00550-1. Epub 2020 Mar 14. Metab Brain Dis. 2020. PMID: 32172518 Free PMC article.

3

Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.

Brown MN, Walters DC, Schmidt MA, Hill J, McConnell A, Jansen EEW, Salomons GS, Arning E, Bottiglieri T, Gibson KM, Roullet JB. Brown MN, et al. Among authors: jansen eew. J Inherit Metab Dis. 2019 Sep;42(5):1030-1039. doi: 10.1002/jimd.12107. Epub 2019 May 29. J Inherit Metab Dis. 2019. PMID: 31032972

4

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM. Jansen EE, et al. J Inherit Metab Dis. 2016 Nov;39(6):795-800. doi: 10.1007/s10545-016-9980-7. Epub 2016 Sep 29. J Inherit Metab Dis. 2016. PMID: 27686230 Free PMC article.

5

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Roullet JB, Gibson KM. Vogel KR, et al. Among authors: jansen ee. PLoS One. 2017 Oct 20;12(10):e0186919. doi: 10.1371/journal.pone.0186919. eCollection 2017. PLoS One. 2017. PMID: 29053743 Free PMC article.

6

Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.

Struys EA, Jansen EE, Gibson KM, Jakobs C. Struys EA, et al. Among authors: jansen ee. J Inherit Metab Dis. 2005;28(6):913-20. doi: 10.1007/s10545-005-0111-0. J Inherit Metab Dis. 2005. PMID: 16435183

7

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Vogel KR, Ainslie GR, Jansen EE, Salomons GS, Gibson KM. Vogel KR, et al. Among authors: jansen ee. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):33-42. doi: 10.1016/j.bbadis.2016.10.009. Epub 2016 Oct 17. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27760377 Free PMC article.

8

Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acid.

Struys EA, Jansen EE, Salomons GS. Struys EA, et al. Among authors: jansen ee. J Inherit Metab Dis. 2014 May;37(3):327-32. doi: 10.1007/s10545-013-9673-4. Epub 2014 Jan 16. J Inherit Metab Dis. 2014. PMID: 24431009

9

Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues.

Walters DC, Arning E, Bottiglieri T, Jansen EEW, Salomons GS, Brown MN, Schmidt MA, Ainslie GR, Roullet JB, Gibson KM. Walters DC, et al. Among authors: jansen eew. Neurochem Int. 2019 May;125:151-162. doi: 10.1016/j.neuint.2019.02.015. Epub 2019 Feb 26. Neurochem Int. 2019. PMID: 30822440 Free PMC article.

10

Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity.

Walters DC, Jansen EEW, Salomons GS, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Walters DC, et al. Among authors: jansen eew. Epilepsy Res. 2021 Feb;170:106536. doi: 10.1016/j.eplepsyres.2020.106536. Epub 2020 Dec 29. Epilepsy Res. 2021. PMID: 33385945 Free PMC article.

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