E-LIB Suche - Ergebnisse für: Gautschi, Matthias

1

Assessment of the reliability, responsiveness, and meaningf..:

Park, Julien ; Bremova-Ertl, Tatiana ; Brands, Marion...
Journal of Neurology. , 2024

2

Inborn errors of the malate aspartate shuttle – Update on p..:

Koch, Jasmine ; Broeks, Melissa H. ; Gautschi, Matthias..
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108520 , 2024

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

3

Results of a phase III, randomized, placebo-controlled cros..:

Fields, Taylor ; Bremova-Ertl, Tatiana ; Ramaswami, Uma...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107827 , 2024

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

4

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

5

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/..

6

Nocturnal vestibular stimulation using a rocking bed improv..:

Breuss, Alexander ; Strasser, Marco ; Nuoffer, Jean‐Marc...
Journal of Sleep Research. , 2024

Link: https://doi.org/10.1111/..

7

Inborn Errors of Metabolism with Ataxia: Current and Future..:

Bremova-Ertl, Tatiana ; Hofmann, Jan ; Stucki, Janine..
Cells. 12 (2023) 18 - p. 2314 , 2023

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

8

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HN..:

Grassi, Mara ; Laubscher, Bernard ; Pandey, Amit V....
Molecular Syndromology. 14 (2023) 4 - p. 347-362 , 2023

Link: https://doi.org/10.1159/..

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

Galactose epimerase deficiency: lessons from the GalNet reg..:

Derks, Britt ; Demirbas, Didem ; Arantes, Rodrigo R....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

11

Persistent effect of arimoclomol in patients with Niemann-P..:

Patterson, Marc ; Mengel, Eugen ; Da Rio, Rosalia M....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S94 , 2022

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

12

Impact of the SARS‐CoV‐2 pandemic on the health of individu..:

Mütze, Ulrike ; Gleich, Florian ; Barić, Ivo...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 220-231 , 2022

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

13

The RETRIEVE Study: A natural history study of type 2 Gauch..:

Heron-Longe, Benedicte ; Batzios, Spyros ; Mengel, Eugen...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S48-S49 , 2021

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

14

Efficacy and safety of arimoclomol in Niemann‐Pick disease ..:

Mengel, Eugen ; Patterson, Marc C. ; Da Riol, Rosalia M....
Journal of Inherited Metabolic Disease. 44 (2021) 6 - p. 1463-1480 , 2021

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

15

Triheptanoin – Novel therapeutic approach for the ultra-rar..:

Laemmle, Alexander ; Steck, Andrea Lisa ; Schaller, André...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100814 , 2021

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