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    Article

    Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening

    Biotinidase deficiency (BD) may cause neurological symptoms and developmental problems. However, newborn screening of BD and early biotin treatment prevent the manifestation of the majority of symptoms. This s...

    P. Zengin Akkus, K. Ciki, A. Mete Yesil, E. Ilter Bahadur… in European Journal of Pediatrics (2021)

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    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)