Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Kısmet Çıkı"'
Autor:
Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı
Publikováno v:
Balkan Medical Journal, Vol 39, Iss 5, Pp 345-350 (2022)
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic fa
Externí odkaz:
https://doaj.org/article/5e0ef359b03e483e9e005be2d4c153d5
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:
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
Publikováno v:
Klinische Pädiatrie.
Publikováno v:
Clinical Chemistry. 68:858-860
Autor:
Ayca Burcu Kahraman, Yılmaz Yıldız, Kısmet Çıkı, Izzet Erdal, Halil Tuna Akar, Ali Dursun, Ayşegül Tokatlı, Serap Sivri
Publikováno v:
Molecular Genetics and Metabolism. 139:107607
Autor:
Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:539-545
Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly o
Autor:
Serap Sivri, E. Ilter Bahadur, Kısmet Çıkı, P. Zengin Akkus, Sevilay Karahan, A. Mete Yesil, Elif Özmert
Publikováno v:
European Journal of Pediatrics. 180:217-224
Biotinidase deficiency (BD) may cause neurological symptoms and developmental problems. However, newborn screening of BD and early biotin treatment prevent the manifestation of the majority of symptoms. This study intended to examine the developmenta
Autor:
H. Serap Sivri, Halil Tuna Akar, Ayça Burcu Kahraman, Ali Dursun, Yilmaz Yildiz, Kısmet Çıkı, İzzet Erdal, Yamaç Karaboncuk, Turgay Coşkun, Ayşegül Tokatlı
Publikováno v:
The Turkish journal of pediatrics. 63(5)
Background Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the
Publikováno v:
Clinical chemistry. 67(10)