Suchergebnisse - "Sass, Jörn Oliver"

PubPharm (256)

1

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

enthalten in: Journal of inherited metabolic disease | 2024

von Schwahn, B. | van Spronsen, F. | Misko, A. | +9

2

Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats : Potential relevance in aminoacylase 1 deficiency

enthalten in: Neurochemistry international | 2023

von Bortoluzzi, V. | Ribeiro, R. | Zemniaçak, �. | +5

3

N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats : Potential implications for the pathogenesis of ACY1 deficiency

enthalten in: Biochemical and biophysical research communications | 2023

von Bortoluzzi, V. | Ribeiro, R. | Pinheiro, C. | +7

4

The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation

enthalten in: Computational and structural biotechnology journal | 2023

von Kühn, S. | Williams, M. | Dercksen, M. | +2

5

In memoriam Willy Lehnert

enthalten in: Journal of Inherited Metabolic Disease | 2023

von Sass, J. | Skerlienė, B.

6

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

enthalten in: ResearchSquare.com | 2022

von Grünert, S. | Sass, J.

7

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

enthalten in: ResearchSquare.com | 2022

von Grünert, S. | Sass, J.

8

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces

enthalten in: ResearchSquare.com | 2022

von Grünert, S. | Sass, J.

9

Impaired ketone body utilisation as a cause of life-threatening ketoacidosis

enthalten in: Postgraduate medical journal | 2022

von Sass, J. | Grünert, S.

10

3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method

enthalten in: Journal of inherited metabolic disease | 2022

von Sasarman, F. | Ferdinandusse, S. | Sinasac, D. | +14

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