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Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Değerliyurt A, et al. Among authors: unal o, unal s. Turk J Pediatr. 2019;61(2):261-266. doi: 10.24953/turkjped.2019.02.016. Turk J Pediatr. 2019. PMID: 31951338 Free article.
Degerliyurt A, Gunduz M, Ceylaner S, Unal O, Unal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. ...
Degerliyurt A, Gunduz M, Ceylaner S, Unal O, Unal S. Neonatal form of biotin-thiamine-responsive basal ganglia d …
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K. Demirbilek H, et al. Among authors: unal s. Eur J Endocrinol. 2014 Jun;170(6):885-92. doi: 10.1530/EJE-14-0045. Epub 2014 Mar 31. Eur J Endocrinol. 2014. PMID: 24686051
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.
Ünal S, Gönülal D, Uçaktürk A, Siyah Bilgin B, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, Ellard S, Hussain K. Ünal S, et al. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):478-481. doi: 10.4274/jcrpe.2773. Epub 2016 May 16. J Clin Res Pediatr Endocrinol. 2016. PMID: 27181099 Free PMC article.
1,042 results