Yazar "Arslan, Nur" 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, ... -
Knowledge of Primary Care Physicians on Lysosomal Storage Disorders
Köse, Engin; Bülbül, Selda; Arslan, Nur (2019)Aim: Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial role in the early diagnosis of LSDs. In this study, we aimed to determine the ...