Riza Koksal Ozgul
Overview
Explore the profile of Riza Koksal Ozgul including associated specialties, affiliations and a list of published articles.
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44
Citations
313
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Recent Articles
1.
Akar H, Kahraman A, Yildiz Y, Baran B, Ciki K, Coskun T, et al.
J Pediatr Endocrinol Metab
. 2025 Feb;
PMID: 39953904
Objectives: Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by and genes. This retrospective study presents the clinical and laboratory characteristics...
2.
Solmaz I, Yalnizoglu D, Dursun A, Ciki K, Akar H, Koksal Ozgul R, et al.
Neurol Sci
. 2025 Feb;
PMID: 39937421
Background/aim: NAD(P)HX epimerase (NAXE) gene mutations have been associated with early onset progressive encephalopathy. We present three patients with NAXE gene mutations and different initial manifestations. Cases: Patient(P)1 was a...
3.
Bilginer Gurbuz B, Gulbakan B, Koksal Ozgul R, Yalnizoglu D, Yucel Yilmaz D, Gocmen R, et al.
Am J Med Genet A
. 2024 May;
194(9):e63645.
PMID: 38709052
Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10....
4.
Anasiz Y, Koksal Ozgul R, Uckan-Cetinkaya D
Curr Protoc
. 2024 Apr;
4(4):e1032.
PMID: 38606955
The therapeutic potential of mesenchymal stromal cells (MSCs) has been extensively investigated in both preclinical and clinical settings. Recent years have witnessed the emergence of numerous isolation protocols and culture...
5.
Acar N, Koksal Ozgul R
EXCLI J
. 2023 Aug;
22:520-555.
PMID: 37534225
As a requirement of aerobic metabolism, regulation of redox homeostasis is indispensable for the continuity of living homeostasis and life. Since the stability of the redox state is necessary for...
6.
Ciki K, Koksal Ozgul R, Yildiz Y
Klin Padiatr
. 2022 Dec;
236(5):311-313.
PMID: 36539197
No abstract available.
7.
Duzceker Y, Pehlivanturk-Kizilkan M, Akgul S, Koksal Ozgul R, Kanbur N, Derman O
J Pediatr Endocrinol Metab
. 2021 Dec;
35(3):349-354.
PMID: 34954930
Objectives: Androgen receptor gene CAG repeat, AR (CAG), polymorphism is thought to have an effect on male reproductive functions and a relationship between long AR (CAG) and decreased androgenic activity...
8.
Bilginer Gurbuz B, Yucel Yilmaz D, Koksal Ozgul R, Kosukcu C, Dursun A, Sivri H, et al.
Turk J Pediatr
. 2021 Aug;
63(4):691-696.
PMID: 34449152
Background: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly lethal fatty acid oxidation (FAO) disorder caused by defective acylcarnitine transport across the mitochondrial membrane. CACTD is characterized...
9.
Yildiz Y, Kosukcu C, Aygun D, Akcaboy M, Oztek Celebi F, Tasci Yildiz Y, et al.
Clin Genet
. 2021 May;
100(3):308-317.
PMID: 34013567
Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is...
10.
Ayhan S, Nemutlu E, Uckan Cetinkaya D, Kir S, Koksal Ozgul R
J Cell Sci
. 2021 Feb;
134(6).
PMID: 33526717
Bone marrow (BM) niches are special microenvironments that work in harmony with each other for the regulation and maintenance of hematopoiesis. Niche investigations have thus far been limited to various...