E-LIB Suche - Ergebnisse für: Opladen, Thomas

1

The continuously evolving phenotype of succinic semialdehyd..:

Julia‐Palacios, Natalia Alexandra ; Kuseyri Hübschmann, Oya ; Olivella, Mireia...
Journal of Inherited Metabolic Disease. 47 (2024) 3 - p. 447-462 , 2024

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

2

Efficacy and safety of oral sepiapterin in participants wit..:

Zori, Roberto ; Lah, Melissa ; Offord, Staphanie...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108277 , 2024

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

3

Neurotransmitters … it is all about communication!:

Opladen, Thomas ; Bertoldi, Mariarita
Journal of Inherited Metabolic Disease. 47 (2024) 3 - p. 409-410 , 2024

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

4

Clinical and molecular outcomes from the 5-Year natural his..:

Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

5

Consensus guidelines for the diagnosis and management of su..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108363 , 2024

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

6

Newborn screening for aromatic l-amino acid decarboxylase d..:

Reischl-Hajiabadi, Anna T. ; Okun, Jürgen G. ; Kohlmüller, Dirk...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108148 , 2024

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

7

Preliminary results from the ongoing aphenity extension stu..:

Sacharow, Stephanie ; Muntau, Ania C. ; Bratkovic, Drago...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108251 , 2024

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

8

Reduced evoked cortical beta and gamma activity and neurona..:

Papadelis, Christos ; Ntolkeras, Georgios ; Tokatly Latzer, Itay...
Brain Communications. 5 (2023) 6 - p. , 2023

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

9

aRgus: Multilevel visualization of non-synonymous single nu..:

Schröter, Julian ; Dattner, Tal ; Hüllein, Jennifer...
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1077-1083 , 2023

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

10

The presence and severity of epilepsy coincide with reduced..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; DiBacco, Melissa L....
Epilepsia. 64 (2023) 6 - p. 1516-1526 , 2023

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

11

An AI-based segmentation and analysis pipeline for high-fie..:

Deininger, Luca ; Jung-Klawitter, Sabine ; Mikut, Ralf...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

12

Levodopa‐refractory hyperprolactinemia and pituitary findin..:

Yıldız, Yılmaz ; Kuseyri Hübschmann, Oya ; Akgöz Karaosmanoğlu, Ayça...
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 431-446 , 2023

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

13

Navigating the rare neurotransmitter disease diagnosis: Ins..:

Badnjarevic, Ivana ; Moyer, Kelly ; Bertoldi, Mariarita..
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 413-416 , 2023

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

14

Patient‐initiated conference focuses on bridging gaps betwe..:

Cinquemani, Claudio ; Gujar, Jidnyasa ; Opladen, Thomas
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 411-412 , 2023

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

15

Pathophysiology of Epilepsy in Inherited Metabolic Disorder..:

Latzer, Itay Tokatly ; DiBacco, Melissa ; Opladen, Thomas...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..