Showing results (1-10 of 15) with videos related to
Sort By:
Pageof 2
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 11, 2014
An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screeningDeniz Kör, Neslihan Önenli Mungan, Berna Şeker Yılmaz, et al.The Turkish Journal of Pediatrics|December 25, 2015
Blue-colored sweating: four infants with apocrine chromhidrosisAhmet Yöntem, Deniz Kör, Bircan Hızlı-Karabacak, et al.The Turkish Journal of Pediatrics|January 30, 2018
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiencyBerna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 19, 2016
Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactationNeslihan Önenli Mungan, Deniz Kör, Selim Büyükkurt, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|June 9, 2017
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily doseDeniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut, et al.Balkan Medical Journal|June 17, 2016
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type IHabibe Koç Uçar, Gökhan Tümgör, Deniz Kör, et al.Metabolic Brain Disease|May 19, 2016
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisoneNeslihan Önenli Mungan, Dinçer Yıldızdaş, Deniz Kör, et al.The Turkish Journal of Pediatrics|September 22, 2015
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptomsFaruk İncecik, M Özlem Hergüner, Gülen Mert, et al.Metabolic Brain Disease|November 22, 2017
Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiencyFatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 8, 2015
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavinOzden O Horoz, Neslihan O Mungan, Dincer Yildizdas, et al.Pageof 2