Case report of patients with Fazio-Londe syndrome von Kurkina, M.V, Baydakova, G.V, Kokh, E.E, Krylova, T.D, Melikyan, L.P, Zakharova, E.Y

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α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females von Baydakova, G.V., Ilyushkina, A.A., Moiseev, S., Bychkov, I.O., Nikitina, N.V., Buruleva, Т.А., Zakharova, E.Y.

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Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism von Kopytova, A.E., Rychkov, G.N., Nikolaev, M.A., Baydakova, G.V., Cheblokov, A.A., Senkevich, K.A., Bogdanova, D.A., Bolshakova, O.I., Miliukhina, I.V., Bezrukikh, V.A., Salogub, G.N., Sarantseva, S.V., Usenko, T.C., Zakharova, E.Y., Emelyanov, A.K., Pchelina, S.N.

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LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease von Usenko, T.S., Senkevich, K.A., Basharova, K.S., Bezrukova, A.I., Baydakova, G.V., Tyurin, A.A., Beletskaya, M.V., Kulabukhova, D.G., Grunina, M.N., Emelyanov, A.K., Miliukhina, I.V., Timofeeva, A.A., Zakharova, E.Y., Pchelina, S.N.

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Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results von N.A. Semenova, G.V. Baydakova, N.V. Nikitina, V.K. Podolina, E.Yu. Belyashova, V.N. Kuznetsova, E.M. Kochegurova, L.P. Andreeva, O.N. Khaylova, S.I. Kutsev

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