E-LIB Suche - Ergebnisse für: Grünewald, Stephanie

1

Interim analyses of a first-in-human phase 1/2 mRNA trial f..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 628 (2024) 8009 - p. 872-877 , 2024

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

2

Publisher Correction: Interim analyses of a first-in-human ..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 630 (2024) 8017 - p. E13-E13 , 2024

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

3

Author Correction: Interim analyses of a first-in-human pha..:

Koeberl, Dwight ; Schulze, Andreas ; Sondheimer, Neal...
Nature. 629 (2024) 8011 - p. E10-E10 , 2024

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

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

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schwahn, Bernd C. ; Berry, Gerard T. ; Santra, Saikat...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107476 , 2023

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

6

Liver transplantation in ornithine transcarbamylase deficie..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Chakrapani, Anupam...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101020 , 2023

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

7

Triheptanoin for the treatment of long‐chain fatty acid oxi..:

Vockley, Jerry ; Burton, Barbara K. ; Berry, Gerard...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 943-955 , 2023

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

8

Disorders of carbohydrate metabolism: a review of glycogen ..:

Yeo, Mildrid ; Moawad, Hager ; Grunewald, Stephanie
Paediatrics and Child Health. 33 (2023) 3 - p. 65-72 , 2023

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

9

Phosphomannomutase 2 (PMM2) variants leading to hyperinsuli..:

Kiparissi, Fevronia ; Dastamani, Antonia ; Palm, Liina...
Human Genetics. 142 (2023) 5 - p. 697-704 , 2023

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

10

Prolonged respiratory failure responds to conventional ther..:

Whitehouse, Abigail ; Rehsi, Preeya ; Hartley, Louise...
JIMD Reports. 64 (2023) 4 - p. 274-281 , 2023

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

11

Transplantation in paediatric patients with MMA requires mu..:

Paessler, Alicia ; Cortes-Cerisuelo, Miriam ; Jassem, Wayel...
Pediatric Nephrology. 38 (2023) 8 - p. 2887-2896 , 2023

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

12

Natural history of epilepsy in argininosuccinic aciduria pr..:

Elkhateeb, Nour ; Olivieri, Giorgia ; Siri, Barbara...
Epilepsia. 64 (2023) 6 - p. 1612-1626 , 2023

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

13

The incidence of movement disorder increases with age and c..:

Gurung, Sonam ; Karamched, Saketh ; Perocheau, Dany...
Journal of Inherited Metabolic Disease. , 2023

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

14

Clinical experience with glycerol phenylbutyrate in 20 pati..:

Yeo, Mildrid ; Rehsi, Preeya ; Dorman, Megan...
JIMD Reports. 64 (2023) 5 - p. 317-326 , 2023

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

15

Pathogenic variants inGCSHencoding the moonlighting H-prote..:

Arribas-Carreira, Laura ; Dallabona, Cristina ; Swanson, Michael A...
Human Molecular Genetics. 32 (2022) 6 - p. 917-933 , 2022

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