E-LIB Suche - Ergebnisse für: Forny, Patrick

1

Induced pluripotent stem cell-derived hepatocytes reveal TC..:

Mathis, Déborah ; Koch, Jasmine ; Koller, Sophie...
Molecular Genetics and Metabolism Reports. 39 (2024) - p. 101066 , 2024

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

2

The role of functional assays and multiomics for diagnosis ..:

Forny, Patrick
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108158 , 2024

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

3

Mitochondrial proteome research: the road ahead:

Baker, Zakery N. ; Forny, Patrick ; Pagliarini, David J.
Nature Reviews Molecular Cell Biology. 25 (2023) 1 - p. 65-82 , 2023

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

4

Integrated multi-omics reveals anaplerotic rewiring in meth..:

Forny, Patrick ; Bonilla, Ximena ; Lamparter, David...
Nature Metabolism. 5 (2023) 1 - p. 80-95 , 2023

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

5

Insights into energy balance dysregulation from a mouse mod..:

Lucienne, Marie ; Gerlini, Raffaele ; Rathkolb, Birgit...
Human Molecular Genetics. 32 (2023) 17 - p. 2717-2734 , 2023

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

6

How guideline development has informed clinical research fo..:

Forny, Patrick ; Hörster, Friederike ; Baumgartner, Matthias R...
Journal of Inherited Metabolic Disease. 46 (2023) 3 - p. 520-535 , 2023

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

7

Recovery of enzyme activity in biotinidase deficient indivi..:

Forny, Patrick ; Wicht, Andrea ; Rüfenacht, Véronique..
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 605-620 , 2022

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

8

INTEGRATED MULTI-OMIC ANALYSIS OF A RARE INBORN ERROR OF ME..:

Forny, Patrick ; Bonilla, Ximena ; Lamparter, David...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 271-272 , 2022

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

9

Caregiver burden, and parents' perception of disease severi..:

Bösch, Florin ; Landolt, Markus A. ; Baumgartner, Matthias R....
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100876 , 2022

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

10

Review of the book "Vademecum Metabolicum, fifth edition":

Forny, Patrick
Journal of Inherited Metabolic Disease. 45 (2021) 1 - p. 125-125 , 2021

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

11

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/..

12

Spectrum and characterization of bi-allelic variants in MMA..:

Forny, Patrick ; Plessl, Tanja ; Frei, Caroline...
Human Genetics. 141 (2021) 7 - p. 1253-1267 , 2021

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

13

Impaired mitophagy links mitochondrial disease to epithelia..:

Luciani, Alessandro ; Schumann, Anke ; Berquez, Marine...
Nature Communications. 11 (2020) 1 - p. , 2020

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

14

Is serum biotinidase enzyme activity a potential marker of ..:

Forny, Patrick ; Burda, Patricie ; Bode, Peter.
JIMD Reports. 57 (2020) 1 - p. 58-66 , 2020

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

15

Author Correction: Impaired mitophagy links mitochondrial d..:

Luciani, Alessandro ; Schumann, Anke ; Berquez, Marine...
Nature Communications. 11 (2020) 1 - p. , 2020

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