tallózása szerző szerint "Kato K"

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  • Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia 
    Kure S; Kato K; Dinopoulos A; Gail C; DeGrauw TJ; Christodoulou J; Bzduch V; Kálmánchey, Rozália; Fekete, György; Trojovsky A; Plecko B; Breningstall G; Tohyama J; Aoki Y; Matsubara Y (2006)
    Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multi-enzyme ...
  • Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice 
    Árvai, Kristóf; Horváth, Péter; Balla, Bernadett; Tóbiás, Bálint; Kato K; Kirschner, Gyöngyi; Klujber V; Lakatos, Péter; Kósa, János (2016)
    Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely ...