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1Academic Journal
Authors: A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Voskoboeva, M. A. Dantseva, E. Yu. Zakharova, А. Н. Семячкина, Е. А. Николаева, Е. Ю. Воскобоева, М. А. Данцева, Е. Ю. Захарова
Contributors: The study was carried out within the framework of state Funding «Analysis of clinical and genetic polymorphism of disabled monogenic diseases in children to predict their course and identify molecular targets for optimizing treatment» АААА-А18-118051790107-2, Исследование проведено в рамках финансирования Госзадания «Анализ клинико-генетического полиморфизма инвалидизирующих моногенных заболеваний у детей для прогнозирования их течения и определения молекулярных мишеней для оптимизации лечения» АААА-А18-118051790107-2
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 65, № 4 (2020); 142-149 ; Российский вестник перинатологии и педиатрии; Том 65, № 4 (2020); 142-149 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2020-65-4
Subject Terms: велманаза альфа, rare (orphan) diseases, lysosomal storage diseases, alpha-mannosidosis, clinical manifestations, MAN2B1 gene, enzyme replacement therapy, velmanase alpha, редкие (орфанные) болезни, лизосомные болезни накопления, альфа-маннозидоз, клинические проявления, ген MAN2B1, заместительная ферментная терапия
File Description: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/1213/968; Malm D., Nilssen O. Alpha-mannosidosis. Orphanet J Rare Dis 2008; 3: 21. DOI:10.1186/1750-1172-3-21; Menendez-Sainz C., Gonzalez-Quevedo A., Gonzalez-Gar-cia S., Pena-Sanchez M., Giugliani R. High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. Genet Mol Res 2012; 11(3): 2352-2359. DOI:10.4238/2012.August.13.9; HGMD® Professional, 2015. https://www.portal.biobase-in-ternational.com/hgmd/pro/gene.php?gene=MAn2B1.; Borgwardt L., Stensland H.M., Olsen K.J., Wibrand F, Kle-now H.B., Beck M. et al. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localization. Orphanet J Rare Dis 2015; 10: 70. DOI:10.1186/s13023-015-0286-x; Borgwardt L., Lund A.M., Dali C.I. Alpha-mannosidosis — a review of genetic, clinical findings and options of treatment. Pediatr Endocrinol Rev 2014; 12(Suppl. 1): 185—191.; Beck M., Olsen K.J., Wraith J.E., Zeman J., Michals-ki J.C., Saftig P. et al. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis 2013; 8: 88. DOI:10.1186/1750-1172-8-88; Borgwardt L., Danielsen E.R., Thomsen C., Mansson J.E., Taouatas N., Thuesen A.M. et al. Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. Clin Genet 2016; 89 (2016) 489—494. DOI:10.1111/cge.12642; Guffon N., Tylki-Szymanska A., Borgwardt L., Lund A.M., Gil-Campos M., Parini R., Hennermann J.B. Recognition of Alpha-Mannosidosis in Paediatric and Adult Patients: Presentation of a Diagnostic Algorithm From an International Working Group. Mol Genet Metab 2019; 126(4) 470—474. DOI:10.1016/j.ymgme.2019.01.024; Ceccarini M.R., Codini M., Conte C., Patna F., Cataldi S., Ber-telli M. et al. Alpha-Mannosidosis: Therapeutic Strategies. Int J Mol Sci 2018; 19(5): 1500. DOI:10.3390/ijms19051500; Mynarek M., Tolar J., Albert M.H., Escolar M.L., Boelens J.J., Cowan M.J. et al. Allogeneic hematopoietic SCT for al-pha-mannosidosis: an analysis of 17 patients. Bone Marrow Transplant 2012; 47(3): 352—359. DOI:10.1038/bmt.2011.99; Borgwardt L., Guffon N., Amraoui Y., Dali C.I., De Meirleir L., Gil-Campos M. et al. Efficacy and safety of Vfelmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. J Inherit Metab Dis 2018; 41(6): 1215—1223. DOI:10.1007/s10545-018-0185-0; Lund A.M., Borgwardt L., Cattaneo F., Ardigo D., Geraci S., Gil-Campos M. et al. Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. J Inherit Metab Dis 2018; 41(6): 1225-1233. DOI:10.1007/s10545-018-0175-2; Phillips D., Hennermann J.B., Tylki-Szymanska A., Borgwardt L, Gil-Campos M., Guffon N. et al. Use of the Bruininks-Os-eretsky Test of Motor Proficiency (BOT-2) to Assess Efficacy of Vfelmanase Alfa as Enzyme Therapy for Alpha-Mannosido-sis. Mol Genet Metab Rep 2020; 23: 100586. DOI:10.1016/j.ymgmr.2020.100586; Рoenaru L., Girard S., Thepot F., Madelenat P., Huraux-Ren-du C., Vinet M.-C., Dreyfus J.-C. Antenatal diagnosis in three pregnancies at risk for mannosidosis. Clin Genet 1979; 16: 428-432.; Malm D., Nilssen O. Alpha-Mannosidosis. In: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, K. Stephens, A. Amemiya (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020 [updated 2020 May 18]. https://rarediseases.org/rare-diseases/alpha-mannosidosis/
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2Academic Journal
Source: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 4, Pp 142-149 (2020)
Subject Terms: дети, редкие (орфанные) болезни, лизосомные болезни накопления, альфа-маннозидоз, клинические проявления, ген man2b1, заместительная ферментная терапия, велманаза альфа, Pediatrics, RJ1-570
Relation: https://www.ped-perinatology.ru/jour/article/view/1213; https://doaj.org/toc/1027-4065; https://doaj.org/toc/2500-2228; https://doaj.org/article/d383ea0800844776b0fa26b20ca435b3