E-LIB Suche - Ergebnisse für: Kölker, Stefan

1

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 883-898 , 2024

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

2

Impact of supplementation with L-citrulline/arginine after ..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108112 , 2024

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

3

Comparative analysis of gene and disease selection in genom..:

Betzler, Isabel R. ; Hempel, Maja ; Mütze, Ulrike...
Journal of Inherited Metabolic Disease. , 2024

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

4

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024

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

5

Outcomes after newborn screening for propionic and methylma..:

Reischl‐Hajiabadi, Anna T. ; Schnabel, Elena ; Gleich, Florian...
Journal of Inherited Metabolic Disease. , 2024

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

6

Fat embolism syndrome in Duchenne muscular dystrophy: Repor..:

Specht, Sabine ; Zhukova, Irina ; Westhoff, Jens H....
European Journal of Paediatric Neurology. 48 (2024) - p. 91-100 , 2024

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

7

ASS1 deficiency is associated with impaired neuronal differ..:

Seidl, Marie J. ; Scharre, Svenja ; Posset, Roland...
Molecular Genetics and Metabolism. 141 (2024) 1 - p. 108097 , 2024

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

8

Collaborative evaluation study on 18 candidate diseases for..:

Maier, Esther M. ; Mütze, Ulrike ; Janzen, Nils...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1043-1062 , 2023

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

9

Organic acidurias: Ingredients for precision medicine:

Kölker, Stefan ; Baumgartner, Matthias R.
Journal of Inherited Metabolic Disease. 46 (2023) 3 - p. 369-370 , 2023

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

10

The impact of metabolic stressors on mitochondrial homeosta..:

Schumann, Anke ; Brutsche, Marion ; Havermans, Monique...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

11

Insights into energy balance dysregulation from a mouse mod..:

Lucienne, Marie ; Gerlini, Raffaele ; Rathkolb, Birgit...
Human Molecular Genetics. 32 (2023) 17 - p. 2717-2734 , 2023

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

12

The challenge of understanding and predicting phenotypic di..:

Posset, Roland ; Zielonka, Matthias ; Gleich, Florian...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1007-1016 , 2023

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

13

Machine Learning Methods Improve Specificity in Newborn Scr..:

Zaunseder, Elaine ; Mütze, Ulrike ; Garbade, Sven F....
Metabolites. 13 (2023) 2 - p. 304 , 2023

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

14

Phenotypic prediction in glutaric aciduria type 1 combining..:

Yuan, Yuheng ; Dimitrov, Bianca ; Boy, Nikolas...
Journal of Inherited Metabolic Disease. 46 (2023) 3 - p. 391-405 , 2023

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

15

Evaluation of Right Ventricular Function in Patients with P..:

Kovacevic, Alexander ; Garbade, Sven F. ; Hörster, Friederike...
Children. 10 (2023) 1 - p. 113 , 2023

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