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Ezgu, Fatih
194
results:
Search for persons
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Online (194)
Mediatypes
Articles (Online) (95)
OpenAccess-fulltext (99)
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english (177)
Sorted by: Relevance
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1
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/..
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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/..
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4
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/..
?
5
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/..
?
6
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/..
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7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
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11
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/..
?
12
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/..
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13
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/..
?
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/..
1-15