E-LIB Suche - Ergebnisse für: Sass, Jörn Oliver

1

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

Schwahn, Bernd C. ; van Spronsen, Francjan ; Misko, Albert...
Journal of Inherited Metabolic Disease. , 2024

2

Disturbance of mitochondrial functions caused by N-acetylgl..:

Bortoluzzi, Vanessa Trindade ; Ribeiro, Rafael Teixeira ; Zemniaçak, Ângela Beatris...
Neurochemistry International. 171 (2023) - p. 105631 , 2023

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

3

N-Acetylglutamate and N-acetylmethionine compromise mitocho..:

Bortoluzzi, Vanessa Trindade ; Ribeiro, Rafael Teixeira ; Pinheiro, Camila Vieira...
Biochemical and Biophysical Research Communications. 684 (2023) - p. 149123 , 2023

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

4

The glycine N-acyltransferases, GLYAT and GLYATL1, contribu..:

Kühn, Stefan ; Williams, Monray E. ; Dercksen, Marli..
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1236-1248 , 2023

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

5

In memoriam Willy Lehnert:

Sass, Jörn Oliver ; Skerlienė, Birutė
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1209-1209 , 2023

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

6

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expandin..:

Sasarman, Florin ; Ferdinandusse, Sacha ; Sinasac, David S....
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 445-455 , 2022

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

7

Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase ..:

Grünert, Sarah C. ; Sass, Jörn Oliver
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

8

Biomarkers for drug development in propionic and methylmalo..:

Longo, Nicola ; Sass, Jörn Oliver ; Jurecka, Agnieszka.
Journal of Inherited Metabolic Disease. 45 (2022) 2 - p. 132-143 , 2022

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

9

Disorders of Ketone Body Metabolism and Transport:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Sass, Jörn Oliver ; Grünert, Sarah C. - p. 967-980 , 2022

Link: https://doi.org/10.1007/..

10

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/..

11

Frequent sequence variants of human glycine N-acyltransfera..:

Schulke, Daniel ; Sass, Jörn Oliver
Biochimie. 183 (2021) - p. 30-34 , 2021

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

12

Diagnosis of atypical myopathy based on organic acid and ac..:

Mathis, Déborah ; Sass, Jörn Oliver ; Graubner, Claudia.
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100827 , 2021

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

13

Impaired ketone body utilisation as a cause of life-threate..:

Sass, Jörn Oliver ; Grünert, Sarah C
Postgraduate Medical Journal. 98 (2021) 1161 - p. e21-e21 , 2021

Link: https://doi.org/10.1136/..

14

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) defici..:

Grünert, Sarah C. ; Foster, William ; Schumann, Anke...
Biochimie. 183 (2021) - p. 55-62 , 2021

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

15

Guidelines for the diagnosis and management of methylmaloni..:

Forny, Patrick ; Hörster, Friederike ; Ballhausen, Diana...
Journal of Inherited Metabolic Disease. 44 (2021) 3 - p. 566-592 , 2021

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