Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Turgay Coşkun"'
Autor:
Gökçen Kartal Öztürk, Ayşe Korkmaz, Hasan Tolga Çelik, Şule Yiğit, Murat Yurdakök, Turgay Coşkun
Publikováno v:
Journal of Pediatric Research, Vol 11, Iss 1, Pp 17-24 (2024)
Aim: Although indirect hyperbilirubinemia is the most common neonatal problem in term newborns, it is rarely observed in newborns with some inherited metabolic diseases. Therefore, we aimed to compare the frequency of indirect hyperbilirubinemia in n
Externí odkaz:
https://doaj.org/article/fdd3ff425d794368a8b1b9fc7d68b4ce
Autor:
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Publikováno v:
Nutrients, Vol 16, Iss 17, p 2909 (2024)
In phenylketonuria (PKU), natural protein intake is thought to increase with age, particularly during childhood and adolescence. Longitudinal dietary intake data are scarce and lifelong phenylalanine tolerance remains unknown. Nine centres managing P
Externí odkaz:
https://doaj.org/article/8b417410d48748b998fa50b2715ab8ac
Autor:
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, Catherine Ashmore, Amaya Bélanger-Quintana, Alberto Burlina, Turgay Coşkun, Anne Daly, Esther van Dam, Ali Dursun, Sharon Evans, François Feillet, Maria Giżewska, Hulya Gökmen-Özel, Mary Hickson, Yteke Hoekstra, Fatma Ilgaz, Richard Jackson, Alicja Leśniak, Christian Loro, Katarzyna Malicka, Michał Patalan, Júlio César Rocha, Serap Sivri, Iris Rodenburg, Francjan van Spronsen, Kamilla Strączek, Ayşegül Tokatli, Anita MacDonald
Publikováno v:
Nutrients, Vol 16, Iss 13, p 2064 (2024)
Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age. Other studies have shown similar results across the globe. Different target
Externí odkaz:
https://doaj.org/article/42ba779829b34263b496416a7711d06f
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:
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:
Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on t
Externí odkaz:
https://doaj.org/article/40d6cbf7fbf54c78a9591e365d719277
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
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
Autor:
Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici, Giorgia Olivieri, Federica Deodato, Michela Semeraro, Giulio Catesini, Incilay Lay, Turgay Coşkun, Elisa Sacchetti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lackin