Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Orhan Gorukmez"'
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 5, Pp 706-710 (2020)
Objective: Intrahepatic cholestasis of pregnancy (ICP) is a liver disorder of pregnancy characterized by pruritus, elevated liver enzymes and fasting serum bile acids. Genetic predisposition has been suggested to play a role in its etiology and mutat
Externí odkaz:
https://doaj.org/article/184f5564257c4bc5ae45d9df005dca55
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 3, Pp 401-403 (2020)
Externí odkaz:
https://doaj.org/article/7e02545ed5d04a93984a9abdc8768b3c
Autor:
Orhan Gorukmez, Ozlem Gorukmez, Ali Topak, Meral Seferoglu, Ali O Sivaci, Asuman Ali, Nermin Tepe, Sibel C Kabay, Ozlem Taskapilioglu
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 484-490 (2023)
Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. It is clinically, radiologically, and genetically heterogeneous a
Externí odkaz:
https://doaj.org/article/6029d47c199540d0940b793ba7a031e5
Autor:
Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek
Publikováno v:
Revista Brasileira de Reumatologia, Vol 57, Iss 6, Pp 501-506
Abstract Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our re
Externí odkaz:
https://doaj.org/article/e9df650824be4705a663d07ac8d72b56
Autor:
Veysel GOK, Firdevs AYDIN, Alper OZCAN, Ebru YILMAZ, Ekrem UNAL, Musa KARAKUKCU, Türkan PATIROGLU, Mehmet Akif OZDEMIR, Filiz KARAMAN, Orhan GORUKMEZ, Ozlem GORUKMEZ, Atil BISGIN
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S65- (2021)
Objective: The programmed cell death 1 (PD-1) receptor is an immune checkpoint receptor expressed by activated T cells. PD-1 inhibits the immune system by binding to its ligands expressed on tumor cells. Nivolumab and pembrolizumab are some of the mo
Externí odkaz:
https://doaj.org/article/8fc9fac9b6054cc2b9b1c3e60f6e9bd4
Publikováno v:
American Journal of Medical Genetics Part A. 191:1557-1564
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e559ee40a549297a93b0cf4a44b64be6
https://doi.org/10.1002/ajmg.a.63190
https://doi.org/10.1002/ajmg.a.63190
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:11-18
Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::791ee63057d8b614541a326fb422b082
https://doi.org/10.1515/jpem-2020-0352
https://doi.org/10.1515/jpem-2020-0352
Autor:
Sevil Dorum, Burcu Ozturk Hismi, Ali Topak, Orhan Gorukmez, Nur Arslan, Arzu Ekici, Ozge Yilmaz Kusbeci, Figen Baydan, Aylin Yaman, Zumrut Arslan Gulten, Pelin Teke Kisa, Gonca Kılıç Yıldırım, Fatma Nazlı Durmaz Çelik, Serhat Özkan
Publikováno v:
Metabolic Brain Disease. 36:1201-1211
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a59cdebdf575f6cda5cf6c7808ab0c8
https://doi.org/10.1007/s11011-021-00714-7
https://doi.org/10.1007/s11011-021-00714-7
Publikováno v:
Journal of Pediatric Emergency and Intensive Care Medicine, Vol 11, Iss 2, Pp 133-136 (2024)
In some cases, making of physical abuse diagnosis can be difficult if the findings were derived from an unusual disease or an unexpected finding of a common disease. A female infant was admitted to emergency department of our hospital, who was suffer
Externí odkaz:
https://doaj.org/article/f5415a8843c44f4984decb6d2c990fd0
Autor:
Orhan Gorukmez, Nafiye Emel Çakar
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 372-378 (2021)
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology
Objective 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03e758f837243b1a776bbb6946db68ae
http://www.annalsofian.org/article.asp?issn=0972-2327
http://www.annalsofian.org/article.asp?issn=0972-2327