E-LIB Suche - Ergebnisse für: Biberoglu, Gursel

1

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/..

2

Steht die Aktivität der lysosomalen sauren Lipase in Zusamm..:

Kızıltunç, Emrullah ; Gökalp, Sabire ; Biberoğlu, Gürsel...
Herz. 49 (2023) 1 - p. 75-80 , 2023

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

3

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/..

4

The first case with FBXL4 mutation successfully treated wit..:

İnci, Aslı ; Aktaş, Emine ; Cengiz Ergin, Filiz Başak...
Journal of Parenteral and Enteral Nutrition. 45 (2021) 8 - p. 1788-1792 , 2021

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

5

Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Ana..:

İnci, Aslı ; Arslan, Burak ; Okur, İlyas...
Indian Journal of Pediatrics. 88 (2021) 7 - p. 723-723 , 2021

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

6

Do cytokines play role in the pathogenesis of mucopolysacch..:

Inci, Asli ; Olgac, Asburce ; Demirtas, Canan...
Medicine Science | International Medical Journal. 10 (2021) 4 - p. 1492 , 2021

Link: https://doi.org/10.5455/..

7

Hypophosphatasia: is it an underdiagnosed disease even by e..:

İnci, Aslı ; Ergin, Filiz Başak Cengiz ; Yüce, Burcu Topcu...
Journal of Bone and Mineral Metabolism. 39 (2021) 4 - p. 598-605 , 2021

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

8

Autism: Screening of inborn errors of metabolism and unexpe..:

İnci, Aslı ; Özaslan, Ahmet ; Okur, İlyas...
Autism Research. 14 (2021) 5 - p. 887-896 , 2021

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

9

Clinical and event-based outcomes of patients with mucopoly..:

İnci, Aslı ; Okur, İlyas ; Tümer, Leyla...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

Congenital defects of glycosylation: Novel presentations wi..:

İnci, Aslı ; Cengiz, Başak ; Biberoğlu, Gürsel...
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2739-2747 , 2021

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

11

The chemical chaperone 4-phenylbutyrate enhances alpha-gala..:

Dündar, Halil ; Biberoğlu, Gürsel ; İnci, Aslı...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S35-S36 , 2021

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

12

Lysinuric protein intolerance: an overlooked diagnosis:

Olgac, Asburce ; Yenicesu, Idil ; Ozgul, Rıza Köksal..
Egyptian Journal of Medical Human Genetics. 21 (2020) 1 - p. , 2020

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

13

Beneficial Effects of Modified Atkins Diet in Glycogen Stor..:

Olgac, Asburce ; Inci, Asli ; Okur, Ilyas...
Annals of Nutrition & Metabolism. 76 (2020) 4 - p. 233-241 , 2020

Link: https://www.jstor.org/st..

14

Triamterene-induced suppression of R227X premature terminat..:

Dundar, Halil ; Udgu, Basak ; Biberoğlu, Gürsel...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S51 , 2020

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

15

High incidence of co-existing factors significantly modifyi..:

Koca, Serhat ; Tümer, Leyla ; Okur, İlyas...
Gene. 687 (2019) - p. 280-288 , 2019

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