Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Berrak Bilginer-Gürbüz"'
Autor:
Berrak Bilginer Gürbüz, Kısmet Çıkı, H. Hakan Aykan, Tevfik Karagöz, Serap Sivri, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun
Publikováno v:
Cukurova Medical Journal, Vol 46, Iss 4, Pp 1419-1425 (2021)
Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response to routinely used nitisinone treatment in patients with tyrosinemia type 1. Materials and Methods: Participants of this descriptive cross-sectional
Externí odkaz:
https://doaj.org/article/d7ccb0477b394fd699c7504b04028601
Autor:
Berrak Bilginer Gürbüz, Habibe Koç Uçar, Fatma Derya Bulut, Esra Sarıgeçili, Bilge Sarıkepe, Özge Özalp Yüreğir
Publikováno v:
Cukurova Medical Journal, Vol 46, Iss 3, Pp 1201-1207 (2021)
Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses. Materials and Methods: The file records of 14 patients diagnosed with GM2 ganglio
Externí odkaz:
https://doaj.org/article/7256cc1934c44198ab0a2579d0443be4
Autor:
Berrak Bilginer Gürbüz, Ebru Aypar, Dursun Alehan, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, H. Serap Sivri
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 2, Pp 195-201 (2021)
Aim:To investigate cardiac involvement in patients diagnosed with mucopolysaccharidosis type III (MPS III) in a university hospital in Turkey.Materials and Methods:This descriptive cross-sectional study was performed in a university hospital by exami
Externí odkaz:
https://doaj.org/article/ca82d37feadf46dbbc5fdbc0ef6e0928
Autor:
Dilek Demiral Özgedi̇k, Suna Tokgöz Yılmaz, Berrak Bilginer Gürbüz, H. Serap Si̇vri̇, Gonca Sennaroğlu
Publikováno v:
Metabolic Brain Disease. 37:2121-2132
This study aimed to evaluate audiological findings among patients with glutaric aciduria type 1 (GA-1). We used a large test battery for the audiological evaluation of 17 individuals with GA-1 (the study group) and 20 healthy individuals (the control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6385ef97a805a8a94ef05a81a232eec4
https://doi.org/10.1007/s11011-022-00987-6
https://doi.org/10.1007/s11011-022-00987-6
Autor:
Serap Sivri, Tevfik Karagöz, Kısmet Çıkı, Turgay Coşkun, Ali Dursun, Hayrettin Hakan Aykan, Ayşegül Tokatlı, Berrak Bilginer Gürbüz
Publikováno v:
Volume: 46, Issue: 4 1419-1425
Cukurova Medical Journal
Cukurova Medical Journal
Amaç: Bu çalışma, tip 1 tirozinemi hastalarında kardiyomiyopati sıklığını ve rutin olarak kullanılan nitisinon tedavisine yanıtını retrospektif olarak değerlendirmeyi amaçlamıştır.Gereç ve Yöntem: Tanımlayıcı ve kesitsel olan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c7e8641e30e397b8509609161063a72
https://doi.org/10.17826/cumj.984072
https://doi.org/10.17826/cumj.984072
Autor:
Ali Dursun, Dursun Alehan, Berrak Bilginer Gürbüz, Ayşegül Tokatlı, Turgay Coşkun, Ebru Aypar, H. Serap Sivri
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 2, Pp 195-201 (2021)
Aim:To investigate cardiac involvement in patients diagnosed with mucopolysaccharidosis type III (MPS III) in a university hospital in Turkey.Materials and Methods:This descriptive cross-sectional study was performed in a university hospital by exami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c3f17e0e7f6e4a8c69f9c9fe9de54f
https://doaj.org/article/ca82d37feadf46dbbc5fdbc0ef6e0928
https://doaj.org/article/ca82d37feadf46dbbc5fdbc0ef6e0928
Autor:
Dilek Özgedik, Suna Tokgöz YILMAZ, Berrak Bilginer Gürbüz, Serap Kalkanoğlu SİVRİ, Gonca Sennaroğlu
The main objective of this study was to observe the audiological findings of patients with Glutaric Aciduria Type 1 (GA-1), which is very difficult to evaluate and diagnose due to limited scientific literature. We used an audiological test battery to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::daa2a83d4b4d491087a14834bcb6a08b
https://doi.org/10.21203/rs.3.rs-918215/v1
https://doi.org/10.21203/rs.3.rs-918215/v1
Publikováno v:
Volume: 13, Issue: 3 369-373
Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
Purpose: Hepatomegaly, splenomegaly and hepatosplenomegaly in children can be due to infections, genetic liver diseases, hematological diseases or malignancies, autoimmune disorders, and also inborn errors of metabolism (IEM). Some IEM’s have speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b265a656bdadbf733cb9ffab74cfd36
https://dergipark.org.tr/tr/pub/acusaglik/issue/68982/987546
https://dergipark.org.tr/tr/pub/acusaglik/issue/68982/987546
Autor:
Hatice Serap Sivri, Ali Dursun, Berrak Bilginer Gürbüz, Turgay Coşkun, Ayşegül Tokatlı, Dursun Alehan, Ebru Aypar
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1049-1053
Background This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after enzyme replacement therapy (ERT). Methods A retrospective clinical cohort study was conducted on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb48ae1164b778b93ac06c9bcf87aed
https://doi.org/10.1515/jpem-2019-0293
https://doi.org/10.1515/jpem-2019-0293
Autor:
Ali Öztürk, Turgay Coşkun, Mina Gharibzadeh Hizal, Berrak Bilginer Gürbüz, Batuhan Yeke, Yilmaz Yildiz
BACKGROUND Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f44e81f944103a4052533635f6f49d9
https://avesis.deu.edu.tr/publication/details/4e3b8cec-d38d-4abf-bd6f-39011ba5f981/oai
https://avesis.deu.edu.tr/publication/details/4e3b8cec-d38d-4abf-bd6f-39011ba5f981/oai