E-LIB Suche - Ergebnisse für: Rust, Stephan

1

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:

Penkl, Maximilian ; Mayr, Johannes A. ; Feichtinger, René G....
Metabolites. 14 (2024) 4 - p. 238 , 2024

2

Mitochondrial DNA mutations in Medulloblastoma:

Funke, Viktoria L. E. ; Sandmann, Sarah ; Melcher, Viktoria...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

3

A mutation in the neonatal isoform of SCN2A causes neonatal..:

Penkl, Anja ; Reunert, Janine ; Debus, Otfried M....
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 941-947 , 2021

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

4

Translational balancing questioned: Unaltered glycosylation..:

Kemme, Lisa ; Grüneberg, Marianne ; Reunert, Janine...
JIMD Reports. 60 (2021) 1 - p. 42-55 , 2021

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

5

3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A no..:

Meyer, Melanie ; Hollenbeck, Jana C. ; Reunert, Janine...
Journal of Inherited Metabolic Disease. 44 (2021) 6 - p. 1323-1329 , 2021

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

6

Uridine Treatment of the First Known Case of SLC25A36 Defic..:

Jasper, Luisa ; Scarcia, Pasquale ; Rust, Stephan...
International Journal of Molecular Sciences. 22 (2021) 18 - p. 9929 , 2021

Link: https://doi.org/10.3390/..

7

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:

Quitmann, Christina M. ; Rust, Stephan ; Reunert, Janine...
Child Neurology Open. 8 (2021) - p. 2329048X2110349 , 2021

Link: https://doi.org/10.1177/..

8

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:

Belkheir, Aziza Miriam ; Reunert, Janine ; Elpers, Christiane...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate tra..:

Marquardt, Thorsten ; Bzduch, Vladimir ; Hogrebe, Max...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100636 , 2020

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

10

N‐glycome analysis detects dysglycosylation missed by conve..:

Park, Julien H. ; Mealer, Robert G. ; Elias, Abdallah F....
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1370-1381 , 2020

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

11

Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozyg..:

Reunert, Janine ; van den Heuvel, Alijda ; Rust, Stephan.
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 930-936 , 2020

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

12

Transient N‐glycosylation abnormalities likely due to a de ..:

Reunert, Janine ; Rust, Stephan ; Grüneberg, Marianne...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1371-1375 , 2019

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

13

SOD1 deficiency: a novel syndrome distinct from amyotrophic..:

Park, Julien H ; Elpers, Christiane ; Reunert, Janine...
Brain. 142 (2019) 8 - p. 2230-2237 , 2019

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

14

SLC39A8 deficiency: biochemical correction and major clinic..:

Park, Julien H. ; Hogrebe, Max ; Fobker, Manfred...
Genetics in Medicine. 20 (2018) 2 - p. 259-268 , 2018

Link: https://doi.org/10.1038/..

15

Limitations of galactose therapy in phosphoglucomutase 1 de..:

Nolting, Kristine ; Park, Julien H. ; Tegtmeyer, Laura C....
Molecular Genetics and Metabolism Reports. 13 (2017) - p. 33-40 , 2017

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