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  1. No Access

    Chapter

    Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

    Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. S...

    M. Kilic, R. K. Özgül, T. Coşkun, D. Yücel… in JIMD Reports - Case and Research Reports, … (2012)

  2. No Access

    Chapter

    A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene

    Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc deficiency due to an abnormal intestinal zinc transporter. It is characterized by the triad of acral dermatitis, alopecia, and d...

    M. Kilic, M. Taskesen, T. Coskun, F. Gürakan… in JIMD Reports - Case and Research Reports, … (2012)

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    Chapter

    Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

    Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patie...

    A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı… in JIMD Reports - Case and Research Reports, … (2011)

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    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)

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    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)

  6. 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)

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    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)

  8. 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)