Yazar "Unal, Ozlem" için listeleme
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Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Kisa, Pelin Teke; Kose, Melis; Unal, Ozlem; Er, Esra; Hismi, Burcu Ozturk; Bulbul, Fatma Selda; Arslan, Nur (Walter De Gruyter Gmbh, 2019)Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of ... -
Depression and anxiety among parents of phenylketonuria children
Gunduz, Mehmet; Arslan, Nur; Unal, Ozlem; Cakar, Sevim; Kuyum, Pinar; Bulbul, Selda F. (Riyadh Armed Forces Hospital, 2015)Objective: To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU). Methods: This cross-sectional study was conducted in the ... -
Identification of three novel mutations in fourteen patients with citrullinemia type 1
Kose, Engin; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Haeberle, Johannes; Arslan, Nur (Pergamon-Elsevier Science Ltd, 2017)Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, ... -
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
Ozgul, Riza Koksal; Karaca, Mehmet; Kilic, Mustafa; Kucuk, Ozgul; Yucel-Yilmaz, Didem; Unal, Ozlem; Dursun, Ali (Elsevier, 2014)We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients ... -
Turkish Validation of the PICCOLO (Parenting Interactions with Children: Checklist of Observations Linked to Outcomes)
Bayoglu, Birgul; Unal, Ozlem; Elibol, Fatma; Karabulut, Erdem; Innocenti, Mark S. (Wiley, 2013)Early positive parent-child interactions are important for child development. Intervention research focused on increasing positive parent-child interactions has demonstrated increases in desired parenting behaviors and ...