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  1. No Access

    Article

    Neuroleptic malignant syndrome in a patient with citrullinaemia

    A. Dursun, Y. Yilmaz, M. Özsari, N. Kandemir… in Journal of Inherited Metabolic Disease (2000)

  2. No Access

    Article

    Mutation analysis in Turkish patients with hereditary fructose intolerance

    Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European ...

    A. Dursun, H. S. Kalkanoğlu, T. Coşkun… in Journal of Inherited Metabolic Disease (2001)

  3. No Access

    Article

    Maple syrup urine disease: Mutation analysis in Turkish patients

    Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation...

    A. Dursun, M. Henneke, K. Özgül, J. Gartner… in Journal of Inherited Metabolic Disease (2002)

  4. No Access

    Article

    Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

    The aim of this study was to compare the level of maternal knowledge and the blood phenylalanine (Phe) control in phenylketonuria (PKU; OMIM 261600). The study was conducted on 144 children (81 boys, 63 girls)...

    H. Gokmen Ozel, T. Kucukkasap, G. Koksal… in Journal of Inherited Metabolic Disease (2008)

  5. No Access

    Article

    Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

    The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with p...

    E. Ostergaard, L. Birk Moller… in Journal of Inherited Metabolic Disease (2009)

  6. No Access

    Article

    Spectrum of Brevundimonas vesicularis infections in neonatal period: a case series at a tertiary referral center

    To report infections caused by Brevundimonas vesicularis and the treatment regimens administered based on antibiotic studies of this Gram-negative bacterium in the neonatal period.

    N. Karadag, B. S. Karagol, A. A. Kundak, A. Dursun, N. Okumus, G. Tanır… in Infection (2012)