E-LIB Suche - Ergebnisse für: Posset, Roland

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

Long‐term anthropometric development of individuals with in..:

Mütze, Ulrike ; Garbade, Sven F. ; Gleich, Florian...
Journal of Inherited Metabolic Disease. 46 (2022) 1 - p. 15-27 , 2022

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

7

Unmet Needs of Parents of Children with Urea Cycle Disorder:

Scharping, Mara ; Brennenstuhl, Heiko ; Garbade, Sven F....
Children. 9 (2022) 5 - p. 712 , 2022

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

8

Predicting the disease severity in male individuals with or..:

Scharre, Svenja ; Posset, Roland ; Garbade, Sven F....
Annals of Clinical and Translational Neurology. 9 (2022) 11 - p. 1715-1726 , 2022

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

9

Recommendations for diagnosing and managing individuals wit..:

Boy, Nikolas ; Mühlhausen, Chris ; Maier, Esther M....
Journal of Inherited Metabolic Disease. 46 (2022) 3 - p. 482-519 , 2022

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

10

Real‐world management of maple syrup urine disease (MSUD) m..:

de Lonlay, Pascale ; Posset, Roland ; Mütze, Ulrike...
JIMD Reports. 59 (2021) 1 - p. 110-119 , 2021

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

11

Health Outcomes of Infants with Vitamin B12 Deficiency Iden..:

Mütze, Ulrike ; Walter, Magdalena ; Keller, Mareike...
The Journal of Pediatrics. 235 (2021) - p. 42-48 , 2021

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

12

Severity-adjusted evaluation of newborn screening on the me..:

Posset, Roland ; Kölker, Stefan ; Gleich, Florian...
Molecular Genetics and Metabolism. 131 (2020) 4 - p. 390-397 , 2020

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

13

Newborn Screening for Vitamin B12 Deficiency in Germany—Str..:

Gramer, Gwendolyn ; Fang-Hoffmann, Junmin ; Feyh, Patrik...
The Journal of Pediatrics. 216 (2020) - p. 165-172.e4 , 2020

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

14

Long-term effects of medical management on growth and weigh..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

15

Chronic hyperammonemia causes a hypoglutamatergic and hyper..:

Probst, Joris ; Kölker, Stefan ; Okun, Jürgen G....
Experimental Neurology. 331 (2020) - p. 113330 , 2020

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