Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants von Kamenets, Elena A., Gusarova, Elena A., Milovanova, Natalia V., Itkis, Yulia S., Strokova, Tatiana V., Melikyan, Maria A., Garyaeva, Irina V., Rybkina, Irina G., Nikitina, Natalia V., Zakharova, Ekaterina Y.

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BH.sub.4-deficient hyperphenylalaninemia in Russia von Gundorova, Polina, Kuznetcova, Irina A, Baydakova, Galina V, Stepanova, Anna A, Itkis, Yulia S, Kakaulina, Victoria S, Alferova, Irina P, Lyazina, Lidya V, Andreeva, Lilya P, Kanivets, Ilya, Zakharova, Ekaterina Y, Kutsev, Sergey I, Polyakov, Aleksander V

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High-resolution respirometry in fibroblasts of mitochondrial complex I deficiency patients von Krylova, Tatiana D., Tsygankova, Polina G., Itkis, Yulia S., Sheremet, Natalia L., Nevinitsyna, Tatiana A., Zakharova, Ekaterina Yu

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Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome von Sparber, Peter, Mikhaylova, Svetlana, Galkina, Varvara, Itkis, Yulia, Skoblov, Mikhail

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Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia von Kistol, Denis, Tsygankova, Polina, Krylova, Tatiana, Bychkov, Igor, Itkis, Yulia, Nikolaeva, Ekaterina, Mikhailova, Svetlana, Sumina, Maria, Pechatnikova, Natalia, Kurbatov, Sergey, Bostanova, Fatima, Migiaev, Ochir, Zakharova, Ekaterina

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