E-LIB Suche - Ergebnisse für: Jansen, Erwin E. W.

1

Biallelic variants in the SLC13A1 sulfate transporter gene ..:

van de Kamp, Jiddeke M. ; Bökenkamp, Arend ; Smith, Desiree E. C....
Clinical Genetics. 103 (2022) 1 - p. 45-52 , 2022

Link: https://doi.org/10.1111/..

2

Fecal Amino Acid Analysis in Newly Diagnosed Pediatric Infl..:

Jagt, Jasmijn Z ; Struys, Eduard A ; Ayada, Ibrahim...
Inflammatory Bowel Diseases. 28 (2021) 5 - p. 755-763 , 2021

Link: https://doi.org/10.1093/..

3

Preferential accumulation of the active S-(+) isomer in mur..:

Walters, Dana C. ; Jansen, Erwin E.W. ; Salomons, Gajja S....
Epilepsy Research. 170 (2021) - p. 106536 , 2021

Link: https://doi.org/10.1016/..

4

Is impaired energy production a novel insight into the path..:

Minenkova, Anastasia ; Jansen, Erwin E. W. ; Cameron, Jessie...
PLOS ONE. 16 (2021) 9 - p. e0257073 , 2021

Link: https://doi.org/10.1371/..

5

Severe infantile epileptic encephalopathy associated with D..:

Zehavi, Yoav ; Mandel, Hanna ; Eran, Ayelet...
Metabolic Brain Disease. 34 (2019) 2 - p. 557-563 , 2019

Link: https://doi.org/10.1007/..

6

Maternal glutamine supplementation in murine succinic semia..:

Brown, Madalyn N. ; Walters, Dana C. ; Schmidt, Michelle A....
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 1030-1039 , 2019

Link: https://doi.org/10.1002/..

7

Preclinical tissue distribution and metabolic correlations ..:

Walters, Dana C. ; Jansen, Erwin E. W. ; Ainslie, Garrett R....
Pharmacology Research & Perspectives. 7 (2019) 1 - p. , 2019

Link: https://doi.org/10.1002/..

8

Pre-analytical stability of novel cerebrospinal fluid bioma..:

Willemse, Eline A.J. ; Vermeiren, Yannick ; Garcia-Ayllon, Maria-Salud...
Clinica Chimica Acta. 497 (2019) - p. 204-211 , 2019

Link: https://doi.org/10.1016/..

9

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of..:

Pop, Ana ; Struys, Eduard A. ; Jansen, Erwin E. W....
Human Mutation. 40 (2019) 7 - p. 975-982 , 2019

Link: https://doi.org/10.1002/..

10

Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA..:

Walters, Dana C. ; Arning, Erland ; Bottiglieri, Teodoro...
Neurochemistry International. 125 (2019) - p. 151-162 , 2019

Link: https://doi.org/10.1016/..

11

An overview of combined D‐2‐ and L‐2‐hydroxyglutaric acidur..:

Pop, Ana ; Williams, Monique ; Struys, Eduard A....
Journal of Inherited Metabolic Disease. 41 (2017) 2 - p. 169-180 , 2017

Link: https://doi.org/10.1007/..

12

A small molecule inhibitor of mutant IDH2 rescues cardiomyo..:

Wang, Fang ; Travins, Jeremy ; Lin, Zhizhong...
Journal of Inherited Metabolic Disease. 39 (2016) 6 - p. 807-820 , 2016

Link: https://doi.org/10.1007/..

13

Plants Possess a Cyclic Mitochondrial Metabolic Pathway sim..:

Hüdig, Meike ; Maier, Alexander ; Scherrers, Isabell...
Plant and Cell Physiology. 56 (2015) 9 - p. 1820-1830 , 2015

Link: https://doi.org/10.1093/..

14

Torin 1 partially corrects vigabatrin‐induced mitochondrial..:

Vogel, Kara R. ; Ainslie, Garrett R. ; Jansen, Erwin E. W...
Annals of Clinical and Translational Neurology. 2 (2015) 6 - p. 699-706 , 2015

Link: https://doi.org/10.1002/..

15

Human pyrroline‐5‐carboxylate reductase (PYCR1) acts on Δ1‐..:

Struys, Eduard A. ; Jansen, Erwin E. W. ; Salomons, Gajja S.
Journal of Inherited Metabolic Disease. 37 (2014) 3 - p. 327-332 , 2014

Link: https://doi.org/10.1007/..