Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up by Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska

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New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency by Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova

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First report of microcephaly-capillary malformations syndrome in Russia by Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova

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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel <i>VPS33A</i> Variant with Comparison with Other Described Patients by Patryk Lipiński, Krzysztof Szczałuba, Piotr Buda, Ekaterina Y. Zakharova, Galina Baydakova, Agnieszka Ługowska, Agnieszka Różdzyńska-Świątkowska, Zuzanna Cyske, Grzegorz Węgrzyn, Agnieszka Pollak, Rafał Płoski, Anna Tylki-Szymańska

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

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A Clinical Case of a Homozygous Deletion in the <i>APOA5</i> Gene with Severe Hypertriglyceridemia by Petr Andreevich Vasiluev, Olga N. Ivanova, Natalia A. Semenova, Tatiana V. Strokova, Natalia N. Taran, Uliana V. Chubykina, Marat V. Ezhov, Ekaterina Y. Zakharova, Elena L. Dadli, Sergey I. Kutsev

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BH4-deficient hyperphenylalaninemia in Russia. by Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov

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Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S <i>GBA</i> Variant Carriers with and without Parkinson’s Disease by Elena V. Grigor’eva, Alena E. Kopytova, Elena S. Yarkova, Sophia V. Pavlova, Diana A. Sorogina, Anastasia A. Malakhova, Tuyana B. Malankhanova, Galina V. Baydakova, Ekaterina Y. Zakharova, Sergey P. Medvedev, Sofia N. Pchelina, Suren M. Zakian

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Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice by Valentina V. Miroshnikova, Petr A. Vasiluev, Svetlana V. Linkova, Vladislav M. Soloviov, Olga N. Ivanova, Ekaterina R. Tolmacheva, Vasilisa Y. Udalova, Polina V. Baranova, Darya Y. Aleksandrova, Tatiana V. Strokova, Irina M. Miklashevich, Artem D. Izumchenko, Kseniia V. Dracheva, Maria N. Grunina, Nataliya N. Smirnova, Anna S. Kuchina, Ekaterina Y. Zakharova, Sofya N. Pchelina

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Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Diseas... by Alena E. Kopytova, George N. Rychkov, Alexander A. Cheblokov, Elena V. Grigor’eva, Mikhail A. Nikolaev, Elena S. Yarkova, Diana A. Sorogina, Farid M. Ibatullin, Galina V. Baydakova, Artem D. Izyumchenko, Daria A. Bogdanova, Vitali M. Boitsov, Akim V. Rybakov, Irina V. Miliukhina, Vadim A. Bezrukikh, Galina N. Salogub, Ekaterina Y. Zakharova, Sofya N. Pchelina, Anton K. Emelyanov

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Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population by Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova

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