Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Gürsel BİBEROĞLU"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 childre
Externí odkaz:
https://doaj.org/article/deefca80a49349b4bca54098dd4f3cb8
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background Lysinuric protein intolerance (LPI) is an autosomal recessively inherited inborn error of metabolism (IEM) caused by the defect in the dibasic cationic amino acid transporter found on the basolateral membrane of the lung, small in
Externí odkaz:
https://doaj.org/article/b4527c5402cd42c4b668f8e05aa875f9
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 47-50 (2018)
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marri
Externí odkaz:
https://doaj.org/article/7d26e2b97e644e8b87cb9f630e1004d2
Autor:
Aslı İNCİ, Filiz Başak CENGİZ ERGİN, İlyas OKUR, Gürsel BİBEROĞLU, Leyla TÜMER, Fatih Süheyl EZGÜ
Publikováno v:
Volume: 23, Issue: 3 322-325
Kocatepe Tıp Dergisi
Kocatepe Tıp Dergisi
OBJECTIVE: Metabolic syndrome is an increasingly common disorder, characterized by obesity, high low-density cholesterol level (LDL), triglyceride level (TG), and insulin sensitivity. It is known that both genetic and environmental factors play a rol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2466764732881c6d804d0d35bbc50de6
https://doi.org/10.18229/kocatepetip.928450
https://doi.org/10.18229/kocatepetip.928450
Autor:
Fatma Derya Bulut, Neslihan Ekşi Bozbulut, Özge Özalp, Buket Dalgiç, Neslihan Önenli Mungan, Habibe Koç Uçar, Gürsel Biberoğlu
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:681-685
Objectives Niemann–Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathogenic variants in NPC1 or NPC2 genes. NPC is classified according to the age of onset of neurologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b99e46a0b3b6ac29e30655406c739c
https://doi.org/10.1515/jpem-2021-0580
https://doi.org/10.1515/jpem-2021-0580
Autor:
Aslı İnci, Gonca Kılıç Yıldırım, Filiz Başak Cengiz Ergin, Sinan Sarı, Ödül Eğritaş Gürkan, İlyas Okur, Gürsel Biberoğlu, Ayşegül Bükülmez, Fatih Süheyl Ezgü, Buket Dalgıç, Leyla Tümer
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:451-462
Objectives To reveal the different clinical presentations of liver glycogen storage disease type IX (GSD IX), which is a clinically and genetically heterogeneous type of glycogenosis. Methods The data from the electronic hospital records of 25 patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa2388813005e884289e78f9aaefb2a
https://doi.org/10.1515/jpem-2021-0278
https://doi.org/10.1515/jpem-2021-0278
Autor:
Filiz Başak CENGİZ ERGİN, Aslı İNCİ, İlyas OKUR, Gürsel BİBEROĞLU, Leyla TÜMER, Fatih Süheyl EZGÜ
Publikováno v:
Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi. 8:679-682
Giriş ve Amaç: Siklik kusma sendromu (SKS) sık görülen gastrointestinal fonksiyonel bir düzensizliktir. Gastrointestinal fonksiyonel düzensizliklerin mitokondriyal polimorfizmlerle ilişkili olduğu gösterilmiştir. Bu çalışmada, m.3010G>A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::912211628701d487a772d389041bc136
https://doi.org/10.34087/cbusbed.929951
https://doi.org/10.34087/cbusbed.929951
Autor:
Fatih Süheyl Ezgü, Ali Yusuf Oner, Çiğdem Seher Kasapkara, İlyas Okur, Aynur Küçükçongar, Gürsel Biberoğlu, Leyla Tümer, Ebru Arhan, Aslı İnci, Başak Cengiz
Publikováno v:
American Journal of Medical Genetics Part A. 185:2739-2747
The pathophysiology of congenital defects of glycosylation (CDG) is complex and the diagnosis has been a challenge because of the overlapping clinical signs and symptoms as well as a large number of disorders. Isoelectric focusing of transferrin has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94888a213f82bbe027f89578e45f98f0
https://doi.org/10.1002/ajmg.a.62247
https://doi.org/10.1002/ajmg.a.62247
Autor:
Ayse Kiliç, Gürsel Biberoğlu, Murat Öktem, Aslı Inci, Sumeyye Aydogdu Demirel, Basak Udgu, Alime B. Yuce, Ipek Gönül, Ilyas Okur, Leyla Tümer, Fatih Ezgu
Publikováno v:
Molecular Genetics and Metabolism. 138:107181
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57b1bc514112328e696dc4ed722032a9
https://doi.org/10.1016/j.ymgme.2022.107181
https://doi.org/10.1016/j.ymgme.2022.107181
Autor:
Fatih Süheyl Ezgü, Gürsel Biberoğlu, Betül Genç Derin, Asburce Olgac, Leyla Tümer, İlyas Okur, Aslı İnci
Publikováno v:
Volume: 28, Issue: 4 565-571
SDÜ Tıp Fakültesi Dergisi
SDÜ Tıp Fakültesi Dergisi
ObjectiveThere is no applicable and easy procedure to screenoxidative stress in mucopolysaccaridosis (MPS)patients. The aim herein was to show the antioxidativeproperties of free carnitine (FC) and propionylcarnitine(PC) with respect to oxidative mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df9717e97eb67ff1094f227d36701ab
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/96209
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/96209
