Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Mahmut Çoker"'
Autor:
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker
Publikováno v:
JCRPE, Vol 16, Iss 3, Pp 361-366 (2024)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encounte
Externí odkaz:
https://doaj.org/article/875d27ca272e40338b799e3c40693f8d
Autor:
İlayda Korkmaz, Sema Kalkan Uçar, Hüseyin Onay, Eser Yıldırım Sözmen, Mahmut Çoker, Melis Palamar
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 54, Iss 3, Pp 127-132 (2024)
Objectives: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye. Materials and Methods: This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD
Externí odkaz:
https://doaj.org/article/cf42740bfdbb426b897d02162d60103e
Autor:
Erhan Canbay, Ebru Sezer, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker, Eser Yildirim Sözmen
Publikováno v:
ACS Omega, Vol 9, Iss 7, Pp 7621-7633 (2024)
Externí odkaz:
https://doaj.org/article/8e725cfcf435432c8929a63060fda49b
Autor:
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Hüseyin Onay, Bridget Elizabeth Bax, Mahmut Çoker
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 484-493 (2022)
Abstract Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, ai
Externí odkaz:
https://doaj.org/article/fa1e7a6b696a40c6a9e89adca314e9cc
Autor:
Merve Yoldas Celik, Havva Yazıcı, Fehime Erdem, Ebru Canda, Banu Sarsik Kumbaraci, Ipek Kaplan Bulut, Sema Kalkan Ucar, Süleyman Caner Kabasakal, Mahmut Çoker
Publikováno v:
The Journal of Pediatric Academy, Vol 3, Iss 3, Pp 132-134 (2022)
Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 mon
Externí odkaz:
https://doaj.org/article/5656f136d71444228bb4d66f5f98fbb2
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 198-201 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzym
Externí odkaz:
https://doaj.org/article/c49c72c8015242dba0594fd927bce364
Autor:
Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100657- (2020)
Introduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods: Sixteen patients diagnosed to have SURF1-relat
Externí odkaz:
https://doaj.org/article/85bb37d44ad64c5dbc162b48778f03b7
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 34-38 (2018)
Aim:Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase (IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The p
Externí odkaz:
https://doaj.org/article/eaf4536e82f349839c9b0faeb7d4458b
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 28-33 (2018)
Aim:Mucopolysaccharidosis Type IVA (MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearin
Externí odkaz:
https://doaj.org/article/d5c3fa2698744a2ea52a55a6f5e731fb
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 1-6 (2018)
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these
Externí odkaz:
https://doaj.org/article/86915ba42d0b42698020ff7bedd1cbcb