E-LIB Suche - Ergebnisse für: Baertling, Fabian

1

Distinct neonatal hyperammonemia and liver synthesis dysfun..:

Kirchberg, Ina ; Lainka, Elke ; Gangfuß, Andrea...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Delayed-Onset Transient Hyperinsulinism in Infants with Ver..:

Hoermann, Henrike ; Roeper, Marcia ; Welters, Alena...
The Journal of Pediatrics. 258 (2023) - p. 113399 , 2023

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

3

Mesenchymal stem cells improve redox homeostasis and mitoch..:

Navaratnarajah, Tharsini ; Bellmann, Marlen ; Seibt, Annette...
Stem Cell Research & Therapy. 13 (2022) 1 - p. , 2022

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

4

TMEM70 functions in the assembly of complexes I and V:

Sánchez-Caballero, Laura ; Elurbe, Dei M. ; Baertling, Fabian...
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1861 (2020) 8 - p. 148202 , 2020

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

5

Fatal metabolic decompensation in carbonic anhydrase VA def..:

Baertling, Fabian ; Wagner, Matias ; Brunet, Theresa...
Genetics in Medicine. 22 (2020) 3 - p. 654-655 , 2020

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

6

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Comp..:

Baertling, Fabian ; Sánchez-Caballero, Laura ; van den Brand, Mariël A.M....
The Journal of Pediatrics. 196 (2018) - p. 309-313.e3 , 2018

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

7

Modulation of oxidative phosphorylation and redox homeostas..:

Melcher, Marlen ; Danhauser, Katharina ; Seibt, Annette...
Stem Cell Research & Therapy. 8 (2017) 1 - p. , 2017

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

8

NDUFAF4 variants are associated with Leigh syndrome and cau..:

Baertling, Fabian ; Sánchez-Caballero, Laura ; van den Brand, Mariël A M...
European Journal of Human Genetics. 25 (2017) 11 - p. 1273-1277 , 2017

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

9

Mutations in mitochondrial complex I assembly factor NDUFAF..:

Baertling, Fabian ; Sánchez-Caballero, Laura ; Timal, Sharita...
Molecular Genetics and Metabolism. 120 (2017) 3 - p. 243-246 , 2017

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

10

Mutation in mitochondrial complex IV subunit COX5A causes p..:

Baertling, Fabian ; Al-Murshedi, Fathiya ; Sánchez-Caballero, Laura...
Human Mutation. 38 (2017) 6 - p. 692-703 , 2017

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

11

Neonatal encephalocardiomyopathy caused by mutations in VAR..:

Baertling, Fabian ; Alhaddad, Bader ; Seibt, Annette...
Metabolic Brain Disease. 32 (2016) 1 - p. 267-270 , 2016

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

12

The many faces of paediatric mitochondrial disease on neuro..:

Baertling, Fabian ; Klee, Dirk ; Haack, Tobias B....
Child's Nervous System. 32 (2016) 11 - p. 2077-2083 , 2016

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

13

Human thioredoxin 2 deficiency impairs mitochondrial redox ..:

Holzerova, Eliska ; Danhauser, Katharina ; Haack, Tobias B....
Brain. 139 (2015) 2 - p. 346-354 , 2015

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

14

MRPL44 mutations cause a slowly progressive multisystem dis..:

Distelmaier, Felix ; Haack, Tobias B. ; Catarino, Claudia B....
neurogenetics. 16 (2015) 4 - p. 319-323 , 2015

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

15

MRPS22 mutation causes fatal neonatal lactic acidosis with ..:

Baertling, Fabian ; Haack, Tobias B. ; Rodenburg, Richard J....
neurogenetics. 16 (2015) 3 - p. 237-240 , 2015

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