Asude Durmaz
Overview
Explore the profile of Asude Durmaz including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
49
Citations
160
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ozcan M, Kanmaz S, Simsek E, Toprak D, Olculu C, Ince T, et al.
Epileptic Disord
. 2025 Mar;
PMID: 40072314
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications. Methods: A single-center cohort of 128 patients with...
2.
Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, et al.
J Bone Miner Metab
. 2025 Jan;
PMID: 39827430
Introduction: Gaucher disease (GD) is a lysosomal storage disorder causing systemic and skeletal complications. This study evaluates bone health in adult GD type 1 patients, focusing on skeletal complications, bone...
3.
Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Atik Altinok Y, et al.
Eur J Pediatr
. 2024 Dec;
184(1):72.
PMID: 39658645
Conclusion: The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure...
4.
Atik T, Durmusalioglu E, Isik E, Kose M, Kanmaz S, Aykut A, et al.
BMC Med Genomics
. 2024 Oct;
17(1):239.
PMID: 39350166
Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated...
5.
Ak B, Pariltay E, Gumusburun R, Dalgic C, Aykut A, Durmaz A, et al.
J Clin Immunol
. 2024 Sep;
45(1):10.
PMID: 39289195
Purpose: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function LRBA mutations can lead to immune deficiency due to the...
6.
Gerihan H, Cogulu D, Oncag O, Durmaz A, Kuru E
BMC Oral Health
. 2024 Aug;
24(1):1020.
PMID: 39215293
Background: Matrix metalloproteinases (MMPs) are critical enzymes involved in the remodeling and defense mechanisms of dental pulp tissue. While their role in permanent teeth has been extensively studied, research focusing...
7.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, et al.
Immunol Res
. 2024 Apr;
72(4):714-726.
PMID: 38644452
Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs)...
8.
Yazici H, Ak G, Yoldas Celik M, Erdem F, Yuksel Yanbolu A, Er E, et al.
J Pediatr Endocrinol Metab
. 2023 Nov;
37(1):33-41.
PMID: 37925743
Objectives: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form,...
9.
Ozcabi B, Durmaz A, Aykut A, Onal H, Ozen S
J Clin Res Pediatr Endocrinol
. 2023 Oct;
PMID: 37855273
Adenylate cyclase 3 (ADCY3) gene alterations have been found to be associated with obesity. However, few patients with homozygous mutations have been reported so far, and the follow-up procedure and...
10.
Aygun A, Topyildiz E, Geyik M, Karaca N, Durmaz A, Aksu G, et al.
Immunol Res
. 2023 Oct;
72(2):225-233.
PMID: 37840117
Identification of the causes of monogenetic common variable immunodeficiency (CVID) patients has rapidly increased in the last years by means of worldwide availability of appropriate genetic diagnostic methods. However, up...