E-LIB Suche - Ergebnisse für: Ezgu, Fatih

1

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107838 , 2024

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

2

Mucopolysaccharidosis type VII (Sly syndrome) - What do we ..:

Grant, Christina L. ; López-Valdez, Jaime ; Marsden, Deborah.
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108145 , 2024

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

3

Intestinal microbiota composition of children with glycogen..:

Gokalp, Sabire ; Dinleyici, Ener Cagri ; Muluk, Cansu...
European Journal of Clinical Nutrition. 78 (2024) 5 - p. 407-412 , 2024

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

4

Transport®NPC: open phase 3 global trial of intravenous hyd..:

Hastings, Caroline A. ; Goker-Alpan, Ozlem ; Pena, Loren...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107875 , 2024

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

5

Consensus clinical management guidelines for acid sphingomy..:

Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

6

Expert-opinion-based guidance for the care of children with..:

Akgun, Abdurrahman ; Gokcay, Gulden ; Mungan, Neslihan Onenli...
Frontiers in Public Health. 11 (2023) - p. , 2023

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

7

A phase I/II study on intracerebroventricular tralesinidase..:

Muschol, Nicole ; Koehn, Anja ; von Cossel, Katharina...
Journal of Clinical Investigation. 133 (2023) 2 - p. , 2023

Link: https://doi.org/10.1172/..

8

Study design challenges and strategies in clinical trials f..:

Videnovic, Aleksandar ; Pfeiffer, Helle C. V. ; Tylki-Szymańska, Anna...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

9

Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimetha..:

Kiliç, Ayse ; Biberoğlu, Gürsel ; Öktem, Murat...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107181 , 2023

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

10

Expert opinion on patient journey, diagnosis and clinical m..:

Arslan, Nur ; Coker, Mahmut ; Gokcay, Gulden Fatma...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

11

P577: Gene panels for skeletal dysplasia and epilepsy: Maxi..:

Tayoun, Ahmad Abou ; Aradhya, Swaroop ; Bailey, Mitch...
Genetics in Medicine Open. 1 (2023) 1 - p. 100624 , 2023

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

12

Phase 1/2 open-label, multi-center study to assess the safe..:

Jarnes, Jeanine R. ; Day-Salvatore, Debra L. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S62-S63 , 2022

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

13

Chemically modified recombinant human sulfamidase (SOBI003)..:

Harmatz, Paul ; Muenzer, Joseph ; Ezgü, Fatih...
Molecular Genetics and Metabolism. 136 (2022) 4 - p. 249-259 , 2022

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

14

Longitudinal Natural History of Pediatric Subjects Affected..:

Okur, Ilyas ; Ezgu, Fatih ; Giugliani, Roberto...
The Journal of Pediatrics. 249 (2022) - p. 50-58.e2 , 2022

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

15

Synergistic action of the chemical chaperone 4-phenylbutyra..:

Dündar, Halil ; Biberoğlu, Gürsel ; İnci, Aslı...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S40 , 2022

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