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Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism.
Buyukyilmaz G, Baltu D, Soyer T, Tanyıldız M, Demirbilek H. Buyukyilmaz G, et al. Among authors: demirbilek h. Ann Pediatr Endocrinol Metab. 2016 Dec;21(4):230-234. doi: 10.6065/apem.2016.21.4.230. Epub 2016 Dec 31. Ann Pediatr Endocrinol Metab. 2016. PMID: 28164077 Free PMC article.
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K. Demirbilek H, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):69-87. doi: 10.4274/jcrpe.2017.S007. Epub 2017 Dec 27. J Clin Res Pediatr Endocrinol. 2017. PMID: 29280746 Free PMC article. Review.
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Demirbilek H, Cayir A, Flanagan SE, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, Demiral M, Ünal E, Arslan G, Vuralli D, Buyukyilmaz G, Al-Khawaga S, Saeed A, Al Maadheed M, Khalifa A, Onal H, Yuksel B, Ozbek MN, Bereket A, Hattersley AT, Hussain K, De Franco E. Demirbilek H, et al. J Clin Endocrinol Metab. 2020 Dec 1;105(12):e4351-9. doi: 10.1210/clinem/dgaa613. J Clin Endocrinol Metab. 2020. PMID: 32893856 Free PMC article.
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.
Sherif M, Demirbilek H, Çayır A, Tahir S, Çavdarlı B, Demiral M, Cebeci AN, Vurallı D, Rahman SA, Unal E, Büyükyılmaz G, Baran RT, Özbek MN, Hussain K. Sherif M, et al. Among authors: demirbilek h. J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):34-43. doi: 10.4274/jcrpe.galenos.2020.2020.0152. Epub 2020 Sep 17. J Clin Res Pediatr Endocrinol. 2021. PMID: 32938580 Free PMC article.
83 results