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Opladen, Thomas
85
results:
Articles (Online) X
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english (81)
german (3)
Sorted by: Relevance
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?
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/..
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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/..
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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/..
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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/..
1-15