Browsing by Author "Catli, Gonul"
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Are thyroid functions affected in multisystem inflammatory syndrome in children?
Elvan-Tuz, Aysegul; Ayranci, Ilkay; Ekemen-Keles, Yildiz; Karakoyun, Inanc; Catli, Gonul; Kara-Aksay, Ahu; Karadag-Oncel, Eda; Dundar, Bumin Nuri; Yilmaz, Dilek (Galenos Publication System, 2022)Introduction: Multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 is defined as the presence of documented fever, inflammation, and at least two signs of multisystem involvement and lack of an ... -
Asfotase alfa treatment in a 2-year-old girl with childhood hypophosphatasia
Catli, Gonul; Eroglu Filibeli, Berna; Celik, Handan; El, Ozlem; Dundar, Bumin (TR- Dizin, 2022)Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical ... -
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant
Catli, Gonul; Gao, Wen; Foley, Corinne; Ozyilmaz, Berk; Edeer, Neslihan; Diniz, Gulden; Losekoot, Monique; van Doorn, Jaap; Dauber, Andrew; Dundar, Bumin N.; Wit, Jan M.; Hwa, Vivian (Elsevier Ireland Ltd, 2022)STAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency ... -
Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study
Hatun, S.; Mutlu, G. Yesiltepe; Cinaz, P.; Turan, S.; Ekberzade, A.; Bereket, A.; Erbas, M. Y.; Akcay, Teoman; Onal, H.; Bolu, S.; Arslanoglu, I.; Doger, E.; Yilmaz, A. A.; Ucakturk, A.; Karabulut, G. S.; Tuhan, H. U.; Demir, K.; Erdeve, S. S.; Aycan, Z.; Nalbantoglu, O.; Kara, C.; Gungor, N.; Darendeliler, Feyza; Bundak, Ruveyde; Anik, Ahmet; Ucar, Ahmet; Cayir, Atilla; Ergur, Ayca Torel; Ozcabi, Bahar; Haliloglu, Belma; Ozkan, Behzat; Eklioglu, Beray Selver; Kirel, Birgul; Bezen, Digdem; Vuralli, Dogus; Unal, Edip); Sagsak, Elif; Bugrul, Fuat; Catli, Gonul; Korkmaz, Huseyin Anil; Ozbek, Mehmet Nuri; Tayfun, Meltem; Genens, Mikayir; Buyuk, Muammer; Hatipoglu, Nihal; Abali, Saygin; Kiremitci, Seniha; Curek, Yusuf; Siklar, Zeynep (Wiley, 2019)Aims To describe the baseline clinical and laboratory findings and treatment modalities of 367 children and adolescents diagnosed with Type 2 diabetes in various paediatric endocrinology centres in Turkey. Methods A standard ... -
Comprehensive genetic testing shows one in five children with diabetes and non-autoimmune extra-pancreatic features have monogenic aetiology
Patel, Kashyap A.; Colclough, Kevin; Ozbek, Mehmet Nuri; Yildiz, Melek; Guran, Tulay; Kocyigit, Cemil; Acar, Sezer; Siklar, Zeynep; Atar, Muge; Johnson, Matt B.; Flanagan, Sarah E.; Ellard, Sian; Cizmecioglu, Filiz Mine; Berberoglu, Merih; Demir, Korcan; Catli, Gonul; Bas, Serpil; Akcay, Teoman; Demirbilek, Huseyin; Weedon, Michael N.; Hattersley, Andrew T. (Karger, 2018)Young onset Diabetes with non-autoimmune extra pancreatic features -
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
Aycan, Zehra; Keskin, Meliksah; Lafci, Naz Guleray; Savas-Erdeve, Senay; Bas, Firdevs; Poyrazoglu, Sukran; Ozturk, Pinar; Parlak, Mesut; Ercan, Oya; Guran, Tulay; Hatipoglu, Nihal; Ucakturk, Seyit Ahmet; Catli, Gonul; Akyurek, Nesibe; Onder, Asan; Kilinc, Suna; Cetinkaya, Semra (ELSEVIER, 2022)Testicular adrenal rest tumor (TART) is one of the important complications that can cause infertility in male patients with congenital adrenal hyperplasia (CAH) and should therefore be diagnosed and treated at an early ... -
Leptin and leptin receptor gene polymorphisms in obese and healthy children
Yarim, Ayca Kanat; Rasulova, Khayala; Catli, Gonul; Kume, Tuncay; Abaci, Ayhan; Kizildag, Sefa (CUKUROVA UNIV, 2022)Purpose: The of this study is to explore the differences between leptin (LEPG2548A), which is considered efficacious in respect of adiposity and leptin receptor gene variants (LEPRQ223R, K109R, K656N). Furthermore, the ... -
Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
Guran, Tulay; Kara, Cengiz; Yildiz, Melek; Bitkin, Eda C.; Haklar, Goncagul; Lin, Jen-Chieh; Keskin, Mehmet; Barnard, Lise; Anik, Ahmet; Catli, Gonul; Guven, Ayla; Kirel, Birgul; Tutunculer, Filiz; Onal, Hasan; Turan, Serap; Akcay, Teoman; Atay, Zeynep; Yilmaz, Gulay C.; Mamadova, Jamala; Akbarzade, Azad; Sirikci, Onder; Storbeck, Karl-Heinz; Baris, Tugba; Chung, Bon-Chu; Bereket, Abdullah (Endocrine Soc, 2020)Context: The clinical effects of classical 3 beta-hydroxysteroid dehydrogenase 2 (3 beta HSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective: To evaluate an integrated steroid ...
