Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome.

Authors: Bobreshova, Anastasia M., Ionova, Sofya A., Kadyshev, Vitaly V., Sukhanova, Natella V., Viakhireva, Iuliia V., Filatova, Alexandra Yu., Zhurkova, Natalia V., Sparber, Peter A., Marakhonov, Andrey V., Vasilyeva, Tatyana A., Shchagina, Olga A., Kutsev, Sergey I., Zinchenko, Rena A.

Source: International Journal of Molecular Sciences; Oct2024, Vol. 25 Issue 20, p11260, 15p

Subject Terms: RNA analysis, GENETIC polymorphisms, ALBINISM, GENETIC variation, GENETIC disorders

Real world reflections of the patient odyssey in alpha-mannosidosis: Insights and challenges in diagnosis from caregiver interviews

Authors: Sgro, Sonia Antonella ^a, Cruz, Jordi ^b, Bulut, F. Derya ^c, Köse, Engin ^d, Namazova-Baranova, Leyla S. ^e, Zhurkova, Natalia V. ^f, Vashakmadze, Nato V. ^e, Lopez-Rodriguez, Monica ^g

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Clinical, genetic characteristics in Russian patients with Hurler syndrome

Authors: Zhurkova, Natalia V., Vashakmadze, Nato D., Zakharova, Ekaterina Yu, Babaykina, Marina A., Sadeqi, Nilab, Rykunova, Anastasia I., Buchinskaia, Natalia V., Kostik, Mikhail M., Namazova-Baranova, Leyla S.

Source: Molecular genetics and metabolism. 135(2):S131-S132

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154951322.0x000001&indx=1&recIds=ETOCvdc_100154951322.0x000001

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia

Authors: Chistiakov, Dimitry A., Savost'anov, Kirill V., Kuzenkova, Lyudmila M., Gevorkyan, Anait K., Pushkov, Alexander A., Nikitin, Alexey G., Pakhomov, Alexander V., Vashakmadze, Nato D., Zhurkova, Natalia V., Podkletnova, Tatiana V., Mayansky, Nikolai A., Namazova-Baranova, Leila S., Baranov, Alexander A.

Source: In Clinica Chimica Acta 25 September 2014 436:112-120

Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

Authors: Chistiakov, Dimitry A., Kuzenkova, Lyudmila M., Savost'anov, Kirill V., Gevorkyan, Anait K., Pushkov, Alexander A., Nikitin, Alexey G., Vashakmadze, Nato D., Zhurkova, Natalia V., Podkletnova, Tatiana V., Namazova-Baranova, Leila S., Baranov, Alexander A.

Source: In Journal of Genetics and Genomics 20 April 2014 41(4):197-203

Deletion of chromosomal region Xq28 cause of Hunter syndrome in a patient with mild clinical phenotype

Authors: Zhurkova, Natalia V., Savostyanov, Kirill Victorovich, Pushkov, Alexandr Andreevich, Podkletnova, Tatiana Vladimirovna, Vashakmadze, Nato Dzhumberovna, Penkov, Evgeny Leonidovich, Kuzenkova, Ludmila Michaylovna

Source: Molecular genetics and metabolism. 126(2):S156-S156

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100075835121.0x000001&indx=1&recIds=ETOCvdc_100075835121.0x000001