E-LIB Suche - Ergebnisse für: Grünert, Sarah C

1

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 883-898 , 2024

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

2

Repurposing SGLT2 inhibitors: Treatment of renal proximal t..:

Overduin, Ruben J. ; Grünert, Sarah C. ; Besouw, Martine T. P....
Journal of Inherited Metabolic Disease. , 2024

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

3

Long-term monitoring of fatty acid oxidation defects: resul..:

Schwantje, Marit ; Grünert, Sarah C. ; Fuchs, Sabine A.
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

4

Empagliflozin for treating neutropenia and neutrophil dysfu..:

Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108486 , 2024

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

5

Impact of citrulline substitution on clinical outcome after..:

Aldrian, Denise ; Waldner, Birgit ; Vogel, Georg F....
Journal of Inherited Metabolic Disease. 47 (2024) 2 - p. 220-229 , 2024

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

6

Outcomes after newborn screening for propionic and methylma..:

Reischl‐Hajiabadi, Anna T. ; Schnabel, Elena ; Gleich, Florian...
Journal of Inherited Metabolic Disease. , 2024

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

7

Treatment recommendations for glycogen storage disease type..:

Grünert, Sarah C. ; Derks, Terry G.J. ; Mundy, Helen...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108144 , 2024

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

8

Isovaleric aciduria identified by newborn screening: Strate..:

Mütze, Ulrike ; Henze, Lucy ; Schröter, Julian...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1063-1077 , 2023

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

9

The impact of metabolic stressors on mitochondrial homeosta..:

Schumann, Anke ; Brutsche, Marion ; Havermans, Monique...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

10

Psychosocial issues and coping strategies in families affec..:

Thiel, Maren ; Garbade, Sven F. ; Rosenbaum‐Fabian, Stefanie..
JIMD Reports. 65 (2023) 1 - p. 25-38 , 2023

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

11

Treatment of the Neutropenia Associated with GSD1b and G6PC..:

Veiga-da-Cunha, Maria ; Wortmann, Saskia B. ; Grünert, Sarah C..
Diagnostics. 13 (2023) 10 - p. 1803 , 2023

Link: https://doi.org/10.3390/..

12

Collaborative evaluation study on 18 candidate diseases for..:

Maier, Esther M. ; Mütze, Ulrike ; Janzen, Nils...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1043-1062 , 2023

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

13

Patient‐reported outcomes on empagliflozin treatment in gly..:

Grünert, Sarah C. ; Venema, Annieke ; LaFreniere, Jamas...
JIMD Reports. 64 (2023) 3 - p. 252-258 , 2023

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

14

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants..:

Grünert, Sarah C. ; Ziagaki, Athanasia ; Heinen, André...
Genes. 14 (2023) 7 - p. 1408 , 2023

Link: https://doi.org/10.3390/..

15

Glycogen storage diseases:

Hannah, William B. ; Derks, Terry G. J. ; Drumm, Mitchell L....
Nature Reviews Disease Primers. 9 (2023) 1 - p. , 2023

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