المؤلفون: Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova, Н. В. Журкова, Н. Д. Вашакмадзе, А. Н. Сурков, Т. В. Турти, К. В. Богданова, Ю. Ю. Коталевская, Е. Ю. Захарова, Л. С. Намазова-Баранова

المساهمون: Not declared, Отсутствует

المصدر: Current Pediatrics; Том 23, № 3 (2024); 188-196 ; Вопросы современной педиатрии; Том 23, № 3 (2024); 188-196 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: симптом «вишневой косточки», type А, acid sphingomyelinase, hepatosplenomegaly, cherry-red spot, тип А, кислая сфингомиелиназа, гепатоспленомегалия

وصف الملف: application/pdf

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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3525
https://doi.org/10.15690/vsp.v23i3.2762

المؤلفون: Andrey N. Surkov, Leyla S. Namazova-Baranova, Anna L. Arakelyan, Evgeny E. Bessonov, Natalia V. Zhurkova, А. Н. Сурков, Л. С. Намазова-Баранова, А. Л. Аракелян, Е. Е. Бессонов, Н. В. Журкова

المساهمون: Not declared, Отсутствует

المصدر: Current Pediatrics; Том 23, № 3 (2024); 162-167 ; Вопросы современной педиатрии; Том 23, № 3 (2024); 162-167 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: глифлозины, neutropenia, granulocyte colony-stimulating factor, sodium-glucose cotransporter type 2 inhibitors, gliflozins, нейтропения, гранулоцитарный колониестимулирующий фактор, ингибиторы натрийзависимого переносчика глюкозы 2-го типа

وصف الملف: application/pdf

Relation: https://vsp.spr-journal.ru/jour/article/view/3521/1376; Gümüş E, Özen H. Glycogen storage diseases: An update. World J Gastroenterol. 2023;29(25):3932–3963. https://doi.org/10.3748/wjg.v29.i25.3932; Баранов А.А., Намазова-Баранова Л.С., Сурков А.Н. и др. Ведение детей с гликогеновой болезнью (нозологические формы с поражением печени). Современные клинические рекомендации // Педиатрическая фармакология. — 2020. — Т. 17. — № 4. — С. 303–317. — https://doi.org/10.15690/pf.v17i4.2159; Sim SW, Weinstein DA, Lee YM, Jun HS. Glycogen storage disease type Ib: role of glucose-6-phosphate transporter in cell metabolism and function. FEBS Lett. 2020;594(1):3–18. https://doi.org/10.1002/1873-3468.13666; Jang Y, Park TS, Park BC, et al. Aberrant glucose metabolism underlies impaired macrophage differentiation in glycogen storage disease type Ib. FASEB J. 2023;37(11):e23216. https://doi.org/10.1096/fj.202300592RR; Сурков А.Н. Гликогеновая болезнь у детей: современные представления (часть I) // Вопросы современной педиатрии. — 2012. — Т. 11. — № 2. — С. 30–42. — https://doi.org/10.15690/vsp.v11i2.208; Сурков А.Н., Черников В.В., Баранов А.А. и др. Результаты оценки качества жизни детей с печеночной формой гликогеновой болезни // Педиатрическая фармакология. — 2013. — Т. 10. — № 4. — С. 90–94. — https://doi.org/10.15690/pf.v10i4.759; Dale DC, Bolyard AA, Marrero T, et al. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol. 2019;26(1):16–21. https://doi.org/10.1097/MOH.0000000000000474; Grünert SC, Venema A, LaFreniere J, et al. Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study. JIMD Rep. 2023;64(3):252–258. https://doi.org/10.1002/jmd2.12364; Li AM, Thyagu S, Maze D, et al. Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length. Pediatr Hematol Oncol. 2018;35(1):45–51. https://doi.org/10.1080/08880018.2018.1440675; Pinsk M, Burzynski J, Yhap M, et al. Acute myelogenous leukemia and glycogen storage disease 1b. J Pediatr Hematol Oncol. 2002;24(9):756–758. https://doi.org/10.1097/00043426-200212000-00015; Schroeder T, Hildebrandt B, Mayatepek E, et al. A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8) (q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. J Med Case Rep. 2008; 2:319. https://doi.org/10.1186/1752-1947-2-319; Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136(9):1033–1043. https://doi.org/10.1182/blood.2019004465; Fortuna D, McCloskey LJ, Stickle DF. Model analysis of effect of canagliflozin (Invokana), a sodium-glucose cotransporter 2 inhibitor, to alter plasma 1,5-anhydroglucitol. Clin Chim Acta. 2016;452: 138–141. https://doi.org/10.1016/j.cca.2015.11.010; Tazawa S, Yamato T, Fujikura H, et al. SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose. Life Sci. 2005;76(9):1039–1050. https://doi.org/10.1016/j.lfs.2004.10.016; Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med. 2022;24(8):1781–1788. https://doi.org/10.1016/j.gim.2022.04.001; D’Acierno M, Resaz R, Iervolino A, et al. Dapagliflozin Prevents Kidney Glycogen Accumulation and Improves Renal Proximal Tubule Cell Functions in a Mouse Model of Glycogen Storage Disease Type 1b. J Am Soc Nephrol. 2022;33(10):1864–1875. https://doi.org/10.1681/ASN.2021070935; Resaz R, Raggi F, Segalerba D. The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb. Mol Genet Metab Rep. 2021;29:100813. https://doi.org/10.1016/j.ymgmr.2021.100813; Tahara A, Takasu T, Yokono M, et al. Characterization and comparison of sodium-glucose cotransporter 2 inhibitors in pharmacokinetics, pharmacodynamics, and pharmacologic effects. J Pharmacol Sci. 2016;130(3):159–169. https://doi.org/10.1016/j.jphs.2016.02.003; Шумилова Н.А., Павлова С.И. Глифлозины: гликемические и негликемические эффекты // Acta medica Eurasica. — 2019. — № 1. — С. 44–51.; Kaczor M, Greczan M, Kierus K, et al. Sodium-glucose cotransporter type 2 channel inhibitor: breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b? JIMD Rep. 2022;63(3):199–206. https://doi.org/10.1002/jmd2.12278; Makrilakis K, Barmpagianni A, Veiga-da-Cunha M. Repurposing of empagliflozin as a possible treatment for neutropenia and inflammatory bowel disease in glycogen storage disease type Ib: a case report. Cureus. 2022;14(7):e27264. https://doi.org/10.7759/cureus.27264; Grünert SC, Elling R, Maag B, et al. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. Orphanet J Rare Dis. 2020;15(1):218. https://doi.org/10.1186/s13023-020-01503-8; Bidiuk J, Gaciong ZA, Sobieraj P. The overall benefits of empagliflozin treatment in adult siblings with glycogen storage disease type Ib: one year experience. Arch Med Sci. 2022;18(4):1095–1099. https://doi.org/10.5114/aoms/150029; Hexner-Erlichman Z, Veiga-da-Cunha M, Zehavi Y, et al. Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients. Front Pediatr. 2022;10:1071464. https://doi.org/10.3389/fped.2022; Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib. JIMD Rep. 2022;63(4):303–308. https://doi.org/10.1002/jmd2.12295; Амосова М.В., Фадеев В.В. Эмпаглифлозин — новые показания к применению — поворотный момент в лечении сахарного диабета 2-го типа // Медицинский Совет. — 2017. — № 3. — С. 38–43.; Alsahli M, Gerich JE. Renal glucose metabolism in normal physiological conditions and in diabetes. Diabetes Res Clin Pract. 2017;133:1–9. https://doi.org/10.1016/j.diabres.2017.07.033; Букатина Т.М., Казаков А.С., Вельц Н.Ю. и др. Ингибиторы натрий-глюкозного котранспортера 2: риск кетоацидоза // Безопасность и риск фармакотерапии. — 2016. — № 2. — С. 33–37.; Goldenberg RM, Berard LD, Cheng AYY, et al. SGLT2 Inhibitor-associated Diabetic Ketoacidosis: Clinical Review and Recommendations for Prevention and Diagnosis. Clin Ther. 2016;38(12):2654–2664.e1. https://doi.org/10.1016/j.clinthera.2016.11.002; https://vsp.spr-journal.ru/jour/article/view/3521

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3521
https://doi.org/10.15690/vsp.v23i3.2761

المؤلفون: Olga Ya. Smirnova, Nato D. Vashakmadze, Maria S. Karaseva, Natalia V. Zhurkova, Anna Yu. Rachkova, Leyla S. Namazova-Baranova, О. Я. Смирнова, Н. Д. Вашакмадзе, М. С. Карасева, Н. В. Журкова, А. Ю. Рачкова, Л. С. Намазова-Баранова

المساهمون: Not specified., Отсутствует.

المصدر: Current Pediatrics; Том 23, № 1 (2024); 6-12 ; Вопросы современной педиатрии; Том 23, № 1 (2024); 6-12 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: агалсидаза-бета, GLA gene, α-galactosidase А, lyso-Gb3, childhood, neuropathic pain, acroparesthesia, angiokeratoma, hyphidrosis, vortex keratopathy, agalsidase alpha, agalsidase beta, ген GLA, α-галактозидаза А, детский возраст, нейропатическая боль, акропарестезии, ангиокератомы, гипогидроз, вихревидная кератопатия, агалсидаза-альфа

وصف الملف: application/pdf

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Cost efficacy of α-galactosidase A enzyme screening for Fabry disease. Mayo Clin Proc. 2019;94(1):84–88. doi: https://doi.org/10.1016/j.mayocp.2018.08.009; Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010;41(1): 78–81. doi: https://doi.org/10.1161/STROKEAHA.109.558320; Rolfs A, Buttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366(9499):1794–1796. doi: https://doi.org/10.1016/S0140-6736(05)67635-0; Reisin RC, Mazziotti J, Cejas LL, et al. Prevalence of Fabry disease in young patients with stroke in Argentina. J Stroke Cerebrovasc Dis. 2018;27(3):575–582. doi: https://doi.org/10.1016/j.jstrokecerebrovasdis.2017.09.045; Song X, Xue S, Zhao J, Wu J. Screening for Fabry’s disease in young patients with ischemic stroke in a Chinese population. 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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3394
https://doi.org/10.15690/vsp.v23i1.2652

المؤلفون: Eduard T. Ambarchyan, Anastasiya D. Kuzminova, Totuy K. Eldarova, Vladislav V. Ivanchikov, Nataliya V. Zhurkova, Nato D. Vashakmadze, Э. Т. Амбарчян, А. Д. Кузьминова, Т. К. Эльдарова, В. В. Иванчиков, Н. В. Журкова, Н. Д. Вашакмадзе

المساهمون: Not declared, Отсутствует

المصدر: Current Pediatrics; Том 23, № 3 (2024); 181-187 ; Вопросы современной педиатрии; Том 23, № 3 (2024); 181-187 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: клинический случай, congenital ichthyosis, children, ichthyosis follicularis, atrichia, photophobia, clinical case, врожденный ихтиоз, дети, фолликулярный ихтиоз, атрихия, фотофобия

وصف الملف: application/pdf

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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3524
https://doi.org/10.15690/vsp.v23i3.2759

المؤلفون: Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov, Н. В. Журкова, Н. Д. Вашакмадзе, Н. С. Сергиенко, А. Н. Дудина, М. С. Карасева, Л. Р. Селимзянова, А. Ю. Рачкова, Ю. Ю. Коталевская, А. Н. Сурков

المصدر: Current Pediatrics; Том 22, № 6 (2023); 560-571 ; Вопросы современной педиатрии; Том 22, № 6 (2023); 560-571 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: нарушения цикла образования мочевины, aminoacidopathy, hereditary amino acid metabolism disorders, urea cycle disorders, аминоацидопатии, наследственные нарушения обмена аминокислот

وصف الملف: application/pdf

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Accessed on December 03, 2023.; Carter MT, Srour M, Au PB, et al. Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). J Med Genet. 2023;60(6):523–532. doi: https://doi.org/10.1136/jmg-2022-108962; Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению. — 2-е изд., перераб. и доп. — М.: Литтерра; 2019. — 368 с.; Hajji H, Imbard A, Spraul A, et al. Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening. Mol Genet Metab Rep. 2022;8(33):1009–1033. doi: https://doi.org/10.1016/j.ymgmr.2022.100933; Наследственная тирозинемия I типа: клинические рекомендации / Союз педиатров России; Ассоциация медицинских генетиков. — 2021. — 62 с. 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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3358
https://doi.org/10.15690/vsp.v22i6.2700

المؤلفون: Nato D. Vashakmadze, Nataliya V. Zhurkova, Н. Д. Вашакмадзе, Н. В. Журкова

المصدر: Current Pediatrics; Том 22, № 6 (2023); 572-576 ; Вопросы современной педиатрии; Том 22, № 6 (2023); 572-576 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: лизосомные болезни накопления, types A and B, acid sphingomyelinase deficiency, lysosomal storage diseases, дефицит кислой сфингомиелиназы

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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3357
https://doi.org/10.15690/vsp.v22i6.2702

المؤلفون: Nato V. Vashakmadze, Natalia V. Zhurkova, Marina A. Babaykina, Albina V. Dobrotok, Olga B. Gordeeva, Leyla S. Namazova-Baranova, Н. Д. Вашакмадзе, Н. В. Журкова, М. А. Бабайкина, А. В. Доброток, О. Б. Гордеева, Л. С. Намазова-Баранова

المصدر: Current Pediatrics; Том 22, № 6 (2023); 554-559 ; Вопросы современной педиатрии; Том 22, № 6 (2023); 554-559 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: ферментозаместительная терапия, type I, Hurler syndrome, hematopoietic stem cell transplantation, enzyme replacement therapy, тип I, синдром Гурлер, трансплантация гемопоэтических стволовых клеток

وصف الملف: application/pdf

Relation: https://vsp.spr-journal.ru/jour/article/view/3361/1355; Hampe CS, Wesley J, Lund TC, et al. Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. Biomolecules. 2021;11(2):189. doi: https://doi.org/10.3390/biom11020189; Neufeld EF, Muenzer J. The Mucopolysaccharidoses. In: The Online Metabolic and Molecular Bases of Inherited Disease. Valle DL, Antonarakis S, Ballabio A, et al., eds. McGraw Hill; 2019–2023. Available online: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225544161. Accessed on December 04, 2023.; Вашакмадзе Н.Д., Костик М.М., Журкова Н.В. и др. Характеристика суставного синдрома у детей с мукополисахаридозом I типа // Вопросы современной педиатрии. —2021. — Т. 20. — № 6S. — С. 567–575. — doi: https://doi.org/10.15690/vsp.v20i6S.2364; Резолюция Совета экспертов. Результаты мониторинга пациентов с МПС I типа. Критерии возобновления ФЗТ при МПС I типа после ТГСК // Педиатрическая фармакология. — 2022. — Т. 19. — № 3. — С. 291–293. — doi: https://doi.org/10.15690/pf.v19i3.2459; Мукополисахаридоз, тип I: клинические рекомендации / Союз педиатров России; Ассоциация медицинских генетиков. — Минздрав России; 2021. — 75 с. Доступно по: https://cr.minzdrav.gov.ru/recomend/380_2. Ссылка активна на 04 декабря 2023.; Eisengart JB, Rudser KD, Tolar J, et al. Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr. 2013;162(2):375–380. doi: https://doi.org/10.1016/j.jpeds.2012.07.052; Gardin A, Castelle M, Pichard S, et al. Long-term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone Marrow Transplant. 2023;58(3):295–302. doi: https://doi.org/10.1038/s41409-022-01886-1; Lund TC, Miller WP, Liao AY, et al. Open issues in Mucopolysaccharidosis type I-Hurler. Orphanet J Rare Dis. 2017;12(1): 112. doi: https://doi.org/10.1186/s13023-017-0662-9; Guffon N, Pettazzoni M, Pangaud N, et al. Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT). Orphanet J Rare Dis. 2021;16(1):60–64. doi: https://doi.org/10.1186/s13023-020-01644-w; Lund TC, Miller WP, Liao AY, et al. Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes. Sci Rep. 2019;9(1):141–145. doi: https://doi.org/10.1038/s41598-019-50595-1; https://vsp.spr-journal.ru/jour/article/view/3361

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3361
https://doi.org/10.15690/vsp.v22i6.2701

المؤلفون: Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova, Н. А. Аверкина, М. Э. Багаева, А. А. Баранов, Н. Д. Вашакмадзе, Е. А. Вишнева, О. С. Гундобина, Н. В. Журкова, Е. В. Кайтукова, Е. В. Комарова, Т. В. Маргиева, Л. С. Намазова-Баранова, В. П. Новикова, Е. Е. Петряйкина, М. М. Платонова, А. С. Потапов, О. Я. Смирнова, Т. В. Строкова, А. Н. Сурков, Н. Н. Таран, М. В. Федосеенко, Н. А. Семёнова, И. В. Анисимова, С. А. Репина, Д. М. Субботин, В. В. Свиридова, А. И. Хавкин, Е. А. Яблокова, Г. В. Волынец, И. В. Садовникова, Е. Л. Туманова

المساهمون: Not specified., Отсутствует

المصدر: Pediatric pharmacology; Том 21, № 3 (2024); 263-288 ; Педиатрическая фармакология; Том 21, № 3 (2024); 263-288 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, glycogen-storage disease, glycogenosis, clinical guidelines, children, болезни накопления гликогена, гликогеноз, клинические рекомендации

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2467
https://doi.org/10.15690/pf.v21i3.2765

المؤلفون: Nato D. Vashakmadze, Nataliya V. Zhurkova, Ekaterina Yu. Zakharova, Ludmila K. Mikhaylova, Marina A. Babaykina, Н. Д. Вашакмадзе, Н. В. Журкова, Е. Ю. Захарова, Л. К. Михайлова, М. А. Бабайкина

المساهمون: Not specified., Отсутствует.

المصدر: Current Pediatrics; Том 22, № 4 (2023); 324-330 ; Вопросы современной педиатрии; Том 22, № 4 (2023); 324-330 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: ферментозаместительная терапия, clinical case, idursulfase beta, Hunterase, enzyme replacement therapy, клинический случай, идурсульфаза бета, Хантераза

وصف الملف: application/pdf

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Glycoconj J. 2014;31(4):309–315. doi: https://doi.org/10.1007/s10719-014-9523-0; Sohn YB, Cho SY, Park SW, et al. Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome). Orphanet J Rare Dis. 2013;8:67. doi: https://doi.org/10.1186/1750-1172-8-42; Sohn YB, Cho SY, Lee J, et al. Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. Mol Genet Metab. 2015;114(2):156–160. doi: https://doi.org/10.1016/j.ymgme.2014.08.009; Muenzer J, Gucsavas-Calikoglu M, McCandless SE, et al. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab. 2007;90(3):329–337. doi: https://doi.org/10.1016/j.ymgme.2006.09.001; Sawamoto K, Stapleton M, Alméciga-Díaz CJ, et al. Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments. Drugs. 2019;79(10):1103–1134. doi: https://doi.org/10.1007/s40265-019-01147-4; Bradley LA, Haddow HRM, Palomaki GE. Treatment of mucopolysaccharidosis type II (Hunter syndrome): Results from a systematic evidence review. Genet Med. 2017;19(11):1187–1201. doi: https://doi.org/10.1038/gim.2017.30; Dierenfeld AD, McEntee MF, Vogler CA, et al. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med. 2010;2(60):60ra89. doi: https://doi.org/10.1126/scitranslmed.3001380; Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В. и др. Мукополисахаридоз II типа: эффективность ферментозаместительной терапии // Вопросы современной педиатрии. — 2019. — Т. 18. — № 6. — С. 485–490. — doi: https://doi.org/10.15690/vsp.v18i6.2070; Lagler FB. Current and Emerging Therapies for Mucopolysaccharidoses. Handb Exp Pharmacol. 2020;261:39–56. doi: https://doi.org/10.1007/164_2019_263; Xie H, Chung J-K, Mascelli MA, McCauley TG. Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. PLoS ONE. 2015;10(4):e0122453. doi: https://doi.org/10.1371/journal.pone.0122453; Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13(2):95–101. doi: https://doi.org/10.1097/GIM.0b013e3181fea459; Giugliani R, Harmatz P, Jones SA, et al. Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. Mol Genet Metab Rep. 2017;12:2–7. doi: https://doi.org/10.1016/j.ymgmr.2017.01.014; Stephan BO, Quaio CR, Spolador GM, et al. Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II. Clinics (Sao Paulo). 2022;77:100082. doi: https://doi.org/10.1016/j.clinsp.2022.100082; https://vsp.spr-journal.ru/jour/article/view/3270

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3270
https://doi.org/10.15690/vsp.v22i4.2613

المؤلفون: Olga S. Kupriyanova, George A. Karkashadze, Natalia V. Zhurkova, Leila S. Namova-Baranova, Ayaz M. Mamedyarov, О. С. Куприянова, Г. А. Каркашадзе, Н. В. Журкова, Л. С. Намазова-Баранова, А. М. Мамедъяров

المساهمون: Not specified., Отсутствует.

المصدر: Current Pediatrics; Том 22, № 4 (2023); 305-310 ; Вопросы современной педиатрии; Том 22, № 4 (2023); 305-310 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: радужная оболочка, psychoneurological disorders, aniridia syndrome, PAX6 gene, WAGR syndrome, iris, психоневрологические нарушения, аниридийный синдром, ген PAX6, WAGR-синдром

وصف الملف: application/pdf

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Arch Pediatr Adolesc Med. 2007;161(5):463–469. doi: https://doi.org/10.1001/archpedi.161.5.463; Hu P, Meng L, Ma D, et al. A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. Mol Cytogenet. 2015;8(1):3. doi: https://doi.org/10.1186/s13039-015-0110-2; Hanish AE, Butman JA, Thomas F, et al. Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haplo-insufficiency. J Sleep Res. 2016;25(1):16–22. doi: https://doi.org/10.1111/jsr.12345; Lee HJ, Colby KA. A review of the clinical and genetic aspects of aniridia. Semin Ophthalmol. 2013;28(5-6):306–312. doi: https://doi.org/10.3109/08820538.2013.825293; Касман-Келнер Б., Вейстенц А., Зейц Б. Медицинское сопровождение врожденной аниридии и аниридийного синдрома (РАХ6-синдрома) // Практическая медицина. — 2015. — № 1-2. — C. 34–61.; Васильева Т.А., Поздеева Н.А., Воскресенская А.А. и др. 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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3267
https://doi.org/10.15690/vsp.v22i4.2611

المؤلفون: Natalia V. Zhurkova, Nato D. Vashakmadze, Ludmila K. Mikhaylova, Marina A. Babaykina, Nina V. Fedorova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova, Н. В. Журкова, Н. Д. Вашакмадзе, Л. К. Михайлова, М. А. Бабайкина, Н. В. Федорова, Е. Ю. Воскобоева, Е. Ю. Захарова, Л. С. Намазова-Баранова

المساهمون: We express our gratitude to Snezhana Aleksandrovna Mitina, the president of the “Hunter syndrome” interregional charitable public organization, for all her help in collecting the materials used in this article, Выражаем благодарность президенту Межрегиональной благотворительной общественной организации «Хантерсиндром» Снежане Александровне Митиной за помощь в сборе материалов, использованных в настоящей статье

المصدر: Current Pediatrics; Том 21, № 6S (2022); 570-576 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 570-576 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: гликозаминогликаны, enzyme replacement therapy, glycosaminoglycans, тип II, ферментозаместительная терапия

وصف الملف: application/pdf

Relation: https://vsp.spr-journal.ru/jour/article/view/3072/1255; Kakkis E, Marsden D. Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses. Mol Genet Metab. 2020;130(1):7–15. doi: https://doi.org/10.1016/j.ymgme.2020.02.006; Yee KS, Alexanderian D, Feng Y, et al. Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review. J Health Econ Outcomes Res. 2022;9(2):67–76. doi: https://doi.org/10.36469/001c.36540; Khan SA, Peracha H, Ballhausen D, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017; 121(3):227–240. doi: https://doi.org/10.1016/j.ymgme.2017.05.016; Wikman-Jorgensen PE, López Amorós A, Peris García J, et al. Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis. Mol Genet Metab. 2020;131(1-2):206–210. doi: https://doi.org/10.1016/j.ymgme.2020.07.005; Whiteman DA, Kimura A. Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future. Drug Des Devel Ther. 2017;11:2467–2480. doi: https://doi.org/10.2147/dddt.s139601; Muenzer J, Botha J, Harmatz P, et al. Evaluation of the longterm treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS). Orphanet J Rare Dis. 2021;16(1):456–469. doi: https://doi.org/10.1186/s13023-021-02052-4; Tomita K, Okamoto S, Seto T, Hamazaki T. Real world longterm outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study. Mol Genet Metab Rep. 2021;29: 1008–1016. doi: https://doi.org/10.1016/j.ymgmr.2021.100816; Bratulic S, Limeta A, Maccari F, et al. Analysis of normal levels of free glycosaminoglycans in urine and plasma in adults. J Biol Chem. 2022;298(2):101575. doi: https://doi.org/10.1016/j.jbc.2022.101575; Concolino D, Deodato F, Parini R. Enzyme replacement therapy: efficacy and limitations. Ital J Pediatr. 2018;44(2):120. doi: https://doi.org/10.1186/s13052-018-0562-1; Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В. и др. Мукополисахаридоз II типа: эффективность ферментозаместительной терапии // Вопросы современной педиатрии. — 2019. — Т. 18. — № 6. — С. 485–490. — doi: https://doi.org/10.15690/vsp.v18i6.2070; Grant N, Sohn YB, Ellinwood NM, et al. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair. Mol Genet Metab Rep. 2022;30:100845. https://doi.org/10.1016/j.ymgmr.2022.100845; https://vsp.spr-journal.ru/jour/article/view/3072

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3072
https://doi.org/10.15690/vsp.v21i6S.2478

المؤلفون: Natalia V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Olga Ya. Smirnova, Natalia S. Sergienko, Natallia G. Ovsyanik, Lilia R. Selimzyanova, Н. В. Журкова, Н. Д. Вашакмадзе, А. Н. Сурков, О. Я. Смирнова, Н. С. Сергиенко, Н. Г. Овсяник, Л. Р. Селимзянова

المساهمون: Not specified, Отсутствует

المصدر: Current Pediatrics; Том 21, № 6S (2022); 522-528 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 522-528 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: гипераммониемия, nonketotic hypoglycemia, carnitine imbalance, hyperammonemia, некетотическая гипогликемия, нарушения обмена карнитина

وصف الملف: application/pdf

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Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury. Open Access Maced J Med Sci. 2018;6(4):666–668. doi: https://doi.org/10.3889/oamjms.2018.158; Ramanathan R, Ibdah JA. Mitochondrial Dysfunction and Acute Fatty Liver of Pregnancy. Int J Mol Sci. 2022;23(7):3595. doi: https://doi.org/10.3390/ijms23073595; Ivin N, Della Torre V, Sanders F, Youngman M. Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature. Intensive Care Soc. 2020;21(2):165–173. doi: https://doi.org/10.1177/1751143719889766; El-Gharbawy A, Vockley J. Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System. Pediatr Clin North Am. 2018;65(2):317–335. doi: https://doi.org/10.1016/j.pcl.2017.11.006; Lund AM, Skovby F, Vestergaard H, et al. Clinical and biochemical monitoring of patients with fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33(5):495–500. doi: https://doi.org/10.1007/s10545-009-9000-2; Нарушения митохондриального β-окисления жирных кислот: клинические рекомендации. Минздрав России; 2021. Доступно по: https://www.pediatr-russia.ru/information/klin-rek/proekty-klinicheskikh-rekomendatsiy/КР%20НОЖК_финал_pdf. Ссылка активна на 25.12.2022.; Bosch AM, Abeling NG, Ijlst L, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011;34(1):159–164. doi: https://doi.org/10.1007/s10545-010-9242-z; Nutrition Management of Inherited Metabolic Diseases. Bernstein LE, Rohr F, Helm JR, eds. Springer; 2015. doi: https://doi.org/10.1007/978-3-319-14621; Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. 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الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3089
https://doi.org/10.15690/vsp.v21i6S.2503

المؤلفون: Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Volha Ya. Smirnova, Grigorii V. Revunenkov, Н. Д. Вашакмадзе, Н. В. Журкова, Л. К. Михайлова, О. Я. Смирнова, Г. В. Ревуненков

المساهمون: Not specified, Источник финансирования отсутствует

المصدر: Current Pediatrics; Том 21, № 6S (2022); 529-534 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 529-534 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: короткая шея, Morquio syndrome, enzyme replacement therapy, lysosomal storage disease, glycosaminoglycans, keratan sulfate, N-acetylglucosamine-6-sulfate sulfatase, corneal opacity, short neck, синдром Моркио, ферментозаместительная терапия, лизосомная болезнь накопления, гликозаминогликаны, кератансульфат, N-ацетилглюкозамин-6-сульфатная сульфатаза, помутнение роговицы

وصف الملف: application/pdf

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J Hum Genet. 2019;64(7):625–635. doi: https://doi.org/10.1038/s10038-019-0604-6; Do Cao J, Wiedemann A, Quinaux T, et al. 30 months followup of an early enzyme replacement therapy in a severe Morquio A patient: About one case. Mol Genet Metab Rep. 2016;9:42–45. doi: https://doi.org/10.1016/j.ymgmr.2016.10.001; Dhawale AA, Thacker MM, Belthur MV, et al. The Lower Extremity in Morquio Syndrome. J Pediatr Orthop. 2012;32(5):534–540. doi: https://doi.org/10.1097/BPO.0b013e318259fe57; Tomatsu S, Yasuda E, Patel P, et al. Morquio A syndrome: Diagnosis and current and future therapies. Pediatr Endocrinol Rev. 2014; 12 Suppl 1(0-1):141–151.; White KK, Jester A, Bache CE, et al. Orthopedic management of the extremities in patients with Morquio A syndrome. J Child Orthop. 2014;8(4):295–304. doi: https://doi.org/10.1007/s11832-014-0601-4; Tomatsu S, Averill LW, Sawamoto K, et al. Obstructive airway in Morquio A syndrome, the past, the present and the future. 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Childs Nerv Syst. 2015;31(2): 203–212. doi: https://doi.org/10.1007/s00381-014-2578-1; Nicolini F, Corradi D, Bosio S, Gherli T. Aortic valve replacement in a patient with Morquio syndrome. Heart Surg Forum. 2008;11(2): E96–E98. doi: https://doi.org/10.1532/HSF98.20071197; Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183–1197. doi: https://doi.org/10.1007/s10545-011-9359-8; John RM, Hunter D, Swanton RH. Echocardiographic abnormalities in type IV mucopolysaccharidosis. Arch Dis Child. 1990; 65(70):746–749. doi: https://doi.org/10.1136/adc.65.7.746; Lin HY, Chuang CK, Ke YY, et al. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA. Pediatr Neonatol. 2019;60(3):342–343. doi: https://doi.org/10.1016/j.pedneo.2018.08.005; https://vsp.spr-journal.ru/jour/article/view/3080

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3080
https://doi.org/10.15690/vsp.v21i6S.2499

المؤلفون: Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, Maria S. Karaseva, Kristina V. Pashkova, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova, Н. Д. Вашакмадзе, Н. В. Журкова, Л. К. Михайлова, М. А. Бабайкина, М. С. Карасева, К. В. Пашкова, Е. Ю. Захарова, Л. С. Намазова-Баранова

المساهمون: Not specified, Отсутствует

المصدر: Current Pediatrics; Том 21, № 6S (2022); 577-582 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 577-582 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: задержка речевого развития, clinical case, hearing loss, spinal deformity, ataxia, congenital cataract, developmental speech delay, клинический случай, тугоухость, деформация позвоночника, атаксия, врожденная катаракта

وصف الملف: application/pdf

Relation: https://vsp.spr-journal.ru/jour/article/view/3088/1256; Ockerman PA, Lund MD. A generalised storage disorder resembling Hurler’s syndrome. Lancet. 1967;290(7509):239–241. doi: https://doi.org/10.1016/S0140-6736(67)92303-3; Ockerman PA, Autio S, Norden NE. Diagnosis of mannosidosis. Lancet. 1973;301(7796):207–208. doi: https://doi.org/10.1016/s0140-6736(73)90045-7; Malm D, Nilssen Ø. Alpha-Mannosidosis. October 11, 2001 [Updated July 18, 2019]. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993–2021. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1396. Accessed on December 12, 2022.; Beck M, Olsen KJ, Wraith JE, et al. Natural history of alphamannosidosis a longitudinal study. Orphan J Rare Dis. 2013;8:88. doi: https://doi.org/10.1186/1750-1172-8-88; Malm D, Nilssen Ø. Alpha-mannosidosis. Orphan J Rare Dis. 2008;3(1):21. doi: https://doi.org/10.1186/1750-1172-3-21; Poupetová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosmal storage disorders in the Czech republic: Comparison with data in different populations. J Inherit Metab Dis. 2010;33(4): 387–396. doi: https://doi.org/10.1007/s10545-010-9093-7; Menendez-Sainz C, Gonzalez-Quevedo A, Gonzalez-Garcia S, et al. High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. Genet Mol Res. 2012; 11(3):2352–2359. doi: https://doi.org/10.4238/2012; Riise Stensland HM, Klenow HB, Van Nguyen L, et al. Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations. Hum Mutat. 2012;33(3):511–520. doi: https://doi.org/10.1002/humu.22005; Paciotti S, Codini M, Tasegian A, et al. Lysosomal alphamannosidase and alpha-mannosidosis. Front Biosci (Landmark Ed). 2017;22(1):157–167. doi: https://doi.org/10.2741/4478; Noll RB, Netzloff ML, Kulkarni R. Long-term follow-up of biochemical and cognitive functioning in patients with mannosidosis. Arch Neurol. 1989;46(5):507–509. doi: https://doi.org/10.1001/archneur.1989.00520410041020; Ara JR, Mayayo E, Marzo ME, et al. Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Childs Nerv Syst. 1999;15(8):369–371. doi: https://doi.org/10.1007/s003810050416; Santoro L, Zampini L, Padella L, et al. Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis. JIMD Rep. 2020;55(1):15–21. doi: https://doi.org/10.1002/jmd2.12144; Aylsworth AS, Taylor HA, Stuart CM, Thomas GH. Mannosidosis: phenotype of a severely affected child and characterization of alphamannosidase activity in cultured fibroblasts from the patient and his parents. J Pediatr. 1976;88(5):814–818. doi: https://doi.org/10.1016/s0022-3476(76)81120-1; Malm D, Halvorsen DS, Tranebjaerg L, Sjursen H. Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr. 2000;159(9):699–703. doi: https://doi.org/10.1007/s004310000545; Matlach J, Zindel T, Amraoui Y, et al. Retinal and optic nerve degeneration in α-mannosidosis. Orphanet J Rare Dis. 2018;13(1):88. doi: https://doi.org/10.1186/s13023-018-0829-z; Autio S, Louhimo T, Helenius M. The clinical course of mannosidosis. Ann Clin Res. 1982;14(2):93–97.; Guffona N, Tylki-Szymanska A, Borgwardtc L, et al. 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: https://doi.org/10.1016/j.ymgme.2019.01.024; Chester MA, Lundblad A, Öckerman PA, Autio S. Mannosidosis. In: Genetic Errors of Glycoprotein Metabolism. Durand P, O’Brian J, eds. Milan, Italy: Edi-Ermes; 1982. pp. 89–120.; Hennermann JB, Raebe EM, Donà F, et al. Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature. Orphanet J Rare Dis. 2022;17(1):287. doi: https://doi.org/10.1186/s13023-022-02422-6; https://vsp.spr-journal.ru/jour/article/view/3088

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3088
https://doi.org/10.15690/vsp.v21i6S.2498

المؤلفون: Natalia V. Buchinskaya, Nato D. Vashakmadze, Natalia V. Zhurkova, Lubov S. Sorokina, Liudmila К. Mikhaylova, Leyla S. Namazova-Baranova, Ekaterina Yu. Zakharova, Valentina I. Larionova, Mikhail M. Kostik, Н. В. Бучинская, Н. Д. Вашакмадзе, Н. В. Журкова, Л. С. Сорокина, Л. К. Михайлова, Л. С. Намазова-Баранова, Е. Ю. Захарова, В. И. Ларионова, М. М. Костик

المساهمون: Not specified, Отсутствует

المصدر: Current Pediatrics; Том 21, № 6S (2022); 548-557 ; Вопросы современной педиатрии; Том 21, № 6S (2022); 548-557 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: диагностические критерии, juvenile idiopathic arthritis, arthropathy, diagnostic criteria, ювенильный идиопатический артрит, артропатия

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://vsp.spr-journal.ru/jour/article/view/3097/1253; https://vsp.spr-journal.ru/jour/article/view/3097/1268; Michaud M, Belmatoug N, Catros F, et al. Mucopolysaccharidosis: A review. Rev Med Interne. 2020;41(3):180–188. doi: https://doi.org/10.1016/j.revmed.2019.11.010; Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v4–v12. doi: https://doi.org/10.1093/rheumatology/ker394; Simonaro CM, D’Angelo M, He X, et al. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol. 2008;172(1):112–122. doi: https://doi.org/10.2353/ajpath.2008.070564; Beck M, Arn P, Giugliani R, et al. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014;16(10): 759–765. doi: https://doi.org/10.1038/gim.2014.25; Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009;7:18. doi: https://doi.org/10.1186/1546-0096-7-18; Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol. 2004;31(2):390–392.; Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1): 19–29. doi: https://doi.org/10.1542/peds.2008-0416; Viskochil D, Muenzer J, Guffon N, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017;59(12):1269–1275. doi: https://doi.org/10.1111/dmcn.13545; Tylki-Szymańska A, De Meirleir L, Di Rocco M, et al. Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. Acta Paediatr. 2018;107(8):1402–1408. doi: https://doi.org/10.1111/apa.14417. PMID: 29797470; Guffon N, Journeau P, Brassier A, et al. Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. Eur J Pediatr. 2019;178(4):593–603. doi: https://doi.org/10.1007/s00431-019-03330-x; Rigoldi M, Verrecchia E, Manna R, Mascia MT. Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):132. doi: https://doi.org/10.1186/s13052-018-0551-4; Clarke LA, Hollak CE. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab. 2015;29(2):219–235. doi: https://doi.org/10.1016/j.beem.2014.08.010; Peck SH, Casal ML, Malhotra NR, et al. Pathogenesis and treatment of spine disease in the mucopolysaccharidoses. Mol Genet Metab. 2016;118(4):232–243. doi: https://doi.org/10.1016/j.ymgme.2016.06.002; Borgo A, Cossio A, Gallone D, et al. Orthopaedic challenges for mucopolysaccharidoses. Ital J Pediatr. 2018;44(Suppl 2):123. doi: https://doi.org/10.1186/s13052-018-0557-y; Baronio F, Zucchini S, Zulian F, et al. Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities. Medicina (Kaunas). 2022;58(1):97. doi: https://doi.org/10.3390/medicina58010097; Foster HE, Kay LJ, Friswell M, et al. Musculoskeletal screening examination (pGALS) for school-age children based on the adult GALS screen. Arthritis Rheum. 2006;55(5):709–716. doi: https://doi.org/10.1002/art.22230; Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v49–v59. doi: https://doi.org/10.1093/rheumatology/ker396; Al-Sannaa NA, Bay L, Barbouth DS, et al. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet J Rare Dis. 2015;10:131. doi: https://doi.org/10.1186/s13023-015-0344-4; https://vsp.spr-journal.ru/jour/article/view/3097

الاتاحة: https://vsp.spr-journal.ru/jour/article/view/3097
https://doi.org/10.15690/vsp.v21i6S.2488

المؤلفون: Andrej N. Surkov, Aleksandr A. Baranov, Lejla S. Namazova-Baranova, Anna L. Arakelyan, Evgenij E. Bessonov, Natal’ya V. Zhurkova, А. Н. Сурков, А. А. Баранов, Л. С. Намазова-Баранова, А. Л. Аракелян, Е. Е. Бессонов, Н. В. Журкова

المساهمون: Not specified, Отсутствует

المصدر: Pediatric pharmacology; Том 20, № 5 (2023); 498-506 ; Педиатрическая фармакология; Том 20, № 5 (2023); 498-506 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: эмпаглифлозин, neutropenia, hypoglycemia, renal glucose transporter inhibitor, empagliflozin, нейтропения, гипогликемия, ингибитор почечного транспортера глюкозы

وصف الملف: application/pdf

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American college of medical genetics and genomics. Genet Med. 2014;16(11):e1–e29. doi: https://doi.org/10.1038/gim.2014.128; Visser G, Rake J-P, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I. J Pediatr. 2000;137(2):187–191. doi: https://doi.org/10.1067/mpd.2000.105232; Chen MA, Weinstein DA. Glycogen storage diseases: diagnosis, treatment and outcome. Transl Sci Rare Dis. 2016;1:45–72. doi: https://doi.org/10.3233/TRD-160006; Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136(9):1033–1043. doi: https://doi.org/10.1182/blood.2019004465; Veiga-da-Cunha M, Chevalier N, Stephenne X, et al. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci USA. 2019;116(4):1241–1250. doi: https://doi.org/10.1073/pnas.1816143116; Yamanouchi T, Tachibana Y, Akanuma H, et al. Origin and disposal of 1,5-anhydroglucitol, a major polyol in the human body. Am J Physiol Metab. 1992;263(2 Pt 1):E268–E273. doi: https://doi.org/10.1152/ajpendo.1992.263.2.E268; Crane RK, Sols A. The non-competitive inhibition of brain hexokinase by glucose-6-Phosphate and related compounds. J Biol Chem. 1954;210(2):597–606. doi: https://doi.org/10.1016/S0021-9258(18)65385-2; Maiorana A, Tagliaferri F, Dionisi-Vici C. Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders. Front Endocrinol (Lausanne). 2023;14:1145111. doi: https://doi.org/10.3389/fendo.2023.1145111; Melis D, Parenti G, Della Casa R, et al. Crohn’s-like ileo-colitis in patients affected by glycogen storage disease Ib: two years’ follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr. 2003;92(12):1415–1421. doi: https://doi.org/10.1080/08035250310007033; Wicker C, Roda C, Perry A, et al. Infectious and digestive complications in glycogen storage disease type Ib: study of a French cohort. Mol Genet Metab Rep. 2020;23:100581. doi: https://doi.org/10.1016/j.ymgmr.2020.100581; Rake JP, Visser G, Labrune P, et al. European Study on glycogen storage disease type I (ESGSD I). Guidelines for management of glycogen storage disease type I — European study on glycogen storage disease type I (ESGSD I). Eur J Pediatr. 2002;161 Suppl:S112–S119. doi: https://doi.org/10.1007/s00431-002-1016-7; Visser G, Rake J, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b — European study on glycogen storage disease type 1. Eur J Pediatr. 2002;161 Suppl:S120–S123. doi: https://doi.org/10.1007/s00431-002-1017-6; Сурков А.Н., Черников В.В., Баранов А.А. и др. Результаты оценки качества жизни детей с печеночной формой гликогеновой болезни // Педиатрическая фармакология. — 2013. — Т. 10. — № 4. — С. 90–94. — doi: https://doi.org/10.15690/pf.v10i4.759; Visser G, Rake J, Labrune P, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1. Eur J Pediatr. 2002;161 Suppl:S83–S87. doi: https://doi.org/10.1007/s00431-002-1010-0; Li AM, Thyagu S, Maze D, et al. Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length. 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الاتاحة: https://www.pedpharma.ru/jour/article/view/2361
https://doi.org/10.15690/pf.v20i5.2646

المؤلفون: Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova, А. А. Баранов, Т. Т. Батышева, О. В. Быкова, Н. Д. Вашакмадзе, Е. В. Вислобокова, А. В. Витебская, Е. А. Вишнева, В. Ю. Воинова, Н. В. Журкова, Е. Ю. Захарова, Л. П. Кисельникова, М. М. Костик, С. И. Куцев, Т. В. Маргиева, Л. С. Намазова-Баранова, С. В. Михайлова, С. В. Моисеев, Т. С. Нагорнова, Л. Р. Селимзянова, А. Н. Семячкина, О. Я. Смирнова, М. В. Федосеенко, С. В. Пищальникова

المساهمون: Not specified., Отсутствует.

المصدر: Pediatric pharmacology; Том 20, № 4 (2023); 318-336 ; Педиатрическая фармакология; Том 20, № 4 (2023); 318-336 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, alkaline phosphatase, nephrocalcinosis, treatment, children, щелочная фосфатаза, нефрокальциноз, лечение

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2343
https://doi.org/10.15690/pf.v20i4.2601

المؤلفون: Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova, И. В. Анисимова, М. Б. Албегова, М. Э. Багаева, Г. В. Байдакова, А. А. Баранов, Н. Д. Вашакмадзе, Е. А. Вишнева, О. С. Гундобина, А. В. Дегтярева, М. В. Ежов, М. С. Жаркова, Н. В. Журкова, Е. Ю. Захарова, В. Т. Ивашкин, Е. А. Каменец, С. И. Куцев, А. Е. Лаврова, И. А. Матинян, С. В. Михайлова, Л. С. Намазова-Баранова, И. Е. Пашкова, Е. Е. Петряйкина, Т. М. Первунина, Н. Л. Печатникова, Н. С. Погосян, С. А. Репина, Л. Р. Селимзянова, Т. А. Скворцова, Т. В. Строкова, Д. М. Субботин, А. Н. Сурков, Е. Л. Туманова, Е. Г. Цимбалова

المساهمون: Not specified., Отсутствует.

المصدر: Pediatric pharmacology; Том 20, № 4 (2023); 337-354 ; Педиатрическая фармакология; Том 20, № 4 (2023); 337-354 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, Wolman disease, cholesterol ester storage disease, diagnostics, management, enzyme replacement therapy, children, болезнь Вольмана, болезнь накопления эфиров холестерина, диагностика, лечение, ферментозаместительная терапия

وصف الملف: application/pdf

Relation: https://www.pedpharma.ru/jour/article/view/2342/1520; Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017;120(1-2):62-66. doi: https://doi.org/10.1016/j.ymgme.2016.11.002; Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243. doi: https://doi.org/10.1016/j.jhep.2013.02.014; Grabowski GA, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Metabolic and molecular bases of inherited disease — OMMBID. Scriver Valle D, Beaudet AL, Vogelstein B, et al., eds. New York: McGraw-Hill; 2014.; Fouchier SW, Defesche JC. Lysosomal acid lipase A and the hyper-cholesterolaemic phenotype. Curr Opin Lipidol. 2013;24(4):332-338. doi: https://doi.org/10.1097/MOL.0b013e328361f6c6; Pericleous M, Kelly C, Wang T, et al. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670-679. doi: https://doi.org/10.1016/S2468-1253(17)30052-3; Santos Silva E, Klaudel-Dreszler M, Bakula A, et al. Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa. Clin Res Hepatol Gastroenterol. 2018;42(5):e77-e82. doi: https://doi.org/10.1016/j.clinre.2018.03.012; Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lysosomal acid lipase deficiency: Wolman's disease. BMJ Case Rep. 2014;2014:bcr2013202652. doi: https://doi.org/10.1136/bcr-2013-202652; Каменец Е.А., Печатникова Н.Л., Какаулина В.С. и др. Дефицит лизосомной кислой липазы у российских больных: молекулярная характеристика и эпидемиология // Медицинская генетика. — 2019. — Т. 18. — № 8. — С. 3-16. — doi: https://doi.org/10.25557/2073-7998.2019.08.3-16; Witeck CDR, Schmitz AC, de Oliveira JMD, et al. Lysosomal acid lipase deficiency in pediatric patients: a scoping review. J Pediatr (Rio J). 2022;98(1):4-14. doi: https://doi.org/10.1016/j.jped.2021.03.003; Дегтярева А.В., Пучкова А.А., Жданова С.И., Дегтярев Д.Н. Болезнь Вольмана — тяжелая младенческая форма дефицита лизосомной кислой липазы // Неонатология: новости, мнения, обучение. — 2019. — Т. 7. — № 2. — С. 42-51. — doi: https://doi.org/10.24411/2308-2402-2019-12003; Jones SA, Valayannopoulos V, Schneider E, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18(5):452-458. doi: https://doi.org/10.1038/gim.2015.108; Маевская М.В., Ивашкин В.Т., Жаркова М.С. и др. 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A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15-16):1207-1210. doi: https://doi.org/10.1016/j.cca.2012.03.019; Lukacs Z, Barr M, Hamilton J. Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2017;471:201-205. doi: https://doi.org/10.1016/j.cca.2017.05.027; Hoffman EP, Barr ML, Giovanni MA, et al. Lysosomal Acid Lipase Deficiency. 2015 Jul 30 [Updated 2016 Sep 1]. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993-2020. Available online: https://www.ncbi.nlm.nih.gov/books/NBK305870. Accessed on July 13, 2023.; Quinn AG, Burton B, Deegan P, et al. Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency. Mol Genet Metab. 2014;111(2):S89. doi: https://doi.org/10.1016/j.ymgme.2013.12.215; Cohen JL, Burfield J, Valdez-Gonzalez K, et al. Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019;14(1):198. doi: https://doi.org/10.1186/s13023-019-1129-y; Al Essa M, Nounou R, Sakati N, et al. Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience. Ann Saudi Med. 1998;18(2):120-124. doi: https://doi.org/10.5144/0256-4947.1998.120; Карпищенко А.И., Москалев А.В., Кузнецов В.В., Жерегеля С.Н. Клиническая лабораторная диагностика заболеваний печени и желчевыводящих путей: руководство для врачей / под ред. А.И. Карпищенко. — М.: ГЭОТАР-Медиа; 2020. — 464 c. — doi: https://doi.org/10.33029/9704-5256-1-LIV-2020-1-464; Tolar J, Petryk A, Khan K, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2009;43(1):21-27. doi: https://doi.org/10.1038/bmt.2008.273; Kohli R, Ratziu V, Fiel MI, et al. Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group. Mol Genet Metab. 2020;129(2):59-66. doi: https://doi.org/10.1016/j.ymgme.2019.11.004; Hulkova H, Elleder M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology. 2012;60(7):1107-1113. doi: https://doi.org/10.1111/j.1365-2559.2011.04164.x; Harrison SA. Management of Lysosomal Acid Lipase Deficiency for the Gastroenterologist and Hepatologist. Gastroenterol Hepatol (N Y). 2016;12(5):331-333.; Jones SA, Rojas-Caro S, Quinn AG, et al. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis. 2017;12(1):25. doi: https://doi.org/10.1186/s13023-017-0587-3; Burton BK, Balwani M, Feillet F, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015;373(11):1010-1020. doi: https://doi.org/10.1056/NEJMoa1501365; Abel F, Arnoux JB, Kostyleva M, et al. Benefit of Sebelipase Alfa in Children and Adults With Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy Overall and by Baseline Alanine Aminotransferase Level. J Hepatol. 2016;64(2):298-299. doi: https://doi.org/10.1016/S0168-8278(16)00382-2; Su K, Donaldson E, Sharma R. Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa. Appl Clin Genet. 2016;9:157-167. doi: https://doi.org/10.2147/TACG.S86760; Valayannopoulos V, Malinova V, Honzík T, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135-1142. doi: https://doi.org/10.1016/j.jhep.2014.06.022; Maciejko JJ. Managing Cardiovascular Risk in Lysosomal Acid Lipase Deficiency. Am J Cardiovasc Drugs. 2017;17(3):217-231. doi: https://doi.org/10.1007/s40256-017-0216-5; Strebinger G, Muller E, Feldman A, Aigner E. Lysosomal acid lipase deficiency — early diagnosis is the key. Hepat Med. 2019;11:79-88. doi: https://doi.org/10.2147/HMER.S201630; Dixon DB. Non-Invasive Techniques in Pediatric Dyslipidemia. In: Endotext. Feingold KR, Anawalt B, Boyce A, et al., eds. South Dartmouth (MA): MDText.com, Inc.; 2020.; Zharkova M, Nekrasova T, Ivashkin V, et al. Fatty Liver and Systemic Atherosclerosis in a Young, Lean Patient: Rule Out Lysosomal Acid Lipase Deficiency. Case Rep Gastroenterol. 2019;13(3):498-507. doi: https://doi.org/10.1159/000504646; Erwin AL. The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency. Therap Adv Gastroenterol. 2017;10(7):553-562. doi: https://doi.org/10.1177/1756283X17705775; Венозный доступ: методические руководства. — Минздрав России; 2019. — 82 с. Доступно по: https://msestra.ru/download/file.php?id=4763. Ссылка активна на 18.07.2023.; Себелипаза альфа. Регистрационное удостоверение № ЛП-004513. Дата регистрации: 31.10.2017 // Государственный реестр лекарственных средств: официальный сайт. Доступно по: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=1eaa9c5e-20c6-4a75-a48c-44f5271fcf4d. Ссылка активна на 14.07.2023.; Jones SA, AlSayed M, Broomfield AA, et al. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD). Mol Genet Metab. 2018;123(2):S72-S73. doi: https://doi.org/10.1016/j.ymgme.2017.12.180; Malinova V, Balwani M, Sharma R, et al. Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study. Liver Int. 2020;40(9):2203-2214. doi: https://doi.org/10.1111/liv.14603; Attachment 2 KANUMA — Sebelipase — Alexion Pharmaceuticals Australia Pty Ltd — PM-2016-01313-1-3 — Extract from the CER FINAL 14 June 2018. Available online: https://www.tga.gov.au/sites/default/files/auspar-sebelipase-alfa-180614-cer.pdf. Accessed on July 13, 2023.; Pastores GM, Hughes DA. Lysosomal Acid Lipase Deficiency: Therapeutic Options. Drug Des Devel Ther. 2020;14:591-601. doi: https://doi.org/10.2147/DDDT.S149264; Gramatges MM, Dvorak CC, Regula DP, et al. Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant. 2009;44(7):449-450. doi: https://doi.org/10.1038/bmt.2009.57; Stein J, Garty BZ, Dror Y, et al. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. 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JIMD Rep. 2013;8:41-46. doi: https://doi.org/10.1007/8904_2012_155; Bernstein DL, Lobritto S, Iuga A, et al. Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. Mol Genet Metab. 2018;124(1):11-19. doi: https://doi.org/10.1016/j.ymgme.2018.03.010; https://www.pedpharma.ru/jour/article/view/2342

الاتاحة: https://www.pedpharma.ru/jour/article/view/2342
https://doi.org/10.15690/pf.v20i4.2602

المؤلفون: S. Ya. Volgina, N. V. Zhurkova, R. G. Gamirova, E. A. Nikolaeva, N. A. Solovyeva, С. Я. Волгина, Н. В. Журкова, Р. Г. Гамирова, Е. А. Николаева, Н. А. Соловьева

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 67, № 5 (2022); 225-230 ; Российский вестник перинатологии и педиатрии; Том 67, № 5 (2022); 225-230 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: междисциплинарный подход, diagnostics, delayed/lagging motor development, interdisciplinary approach, диагностика, задержка/отставание моторного развития

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1730/1312; Неонатология: национальное руководство. Под ред. Н.Н. Володина. М.: ГЭОТАР-МЕДИА, 2019; 896. [Neonatology: a national guide. Editor N.N. Volodin. M.: GEOTAR-MEDIA, 2019; 896. (in Russ.)]; Приказ Министерство Здравоохранения Российской Федерации от 10 августа 2017 г. № 514н «О порядке проведения профилактических медицинских осмотров несовершеннолетних» (редакция от 03.07.2018). https://pol-78.ru/wp-content/uploads/2019/10/med-osm-nesoversh.pdf/ Ссылка активна на 29.08.2022; Аксарина Н.М. Воспитание детей раннего возраста. М.: Медицина, 1977; 256.; Журба Л.Т., Мастюкова Е.М. Нарушение психомоторного развития детей первого года жизни. М.: Медицина, 1981; 272 с.; Пантюхина Г.В., Печора К.Л., Фрухт Э.Л. Диагностика нервно-психического развития детей первых трех лет жизни. М., 1983; 37 с. Metodika_diagnostiki_NPR_polnyj_variant.pdf (karagai-edu.ru); Фрухт Э.Л., Тонкова-Ямпольская Р.В. Сравнительный анализ шкал развития детей 1-го года жизни. Российский вестник перинатологии и педиатрии 1998; 2: 38-43.; Баженова О.В. Диагностика психического развития детей первого года жизни. М: МГУ, 1986; 92 с.; Bayley N. Bayley Scales of Infant and Toddler Development. Administration manual, third edition. San Antonio, TX: Harcourt, 2006; 266 p; Weiss L.G., Oakland Th., Aylward G.P. Bayley-III Clinical Use and Interpretation. A volume in Practical Resources for the Mental Health Professional. Academic Press, 2010; 256 p. DOI:10.1016/C2009-0-01670-5 10. Frankenburg W.K. The DENVER II training manual. Denver: Denver Developmental Materials, Inc.; 1992; Смирнова И.В., Самсонова Т.В. Функциональная диагностика двигательной патологии в детском возрасте. Детская медицина Северо-Запада 2012; 3(1): 36-40.; Косенкова Е.Г. Лысенко И.М., Баркун Г.К., Журавлева Л.Н. Шкалы оценки психомоторного развития детей: современный взгляд на проблему. Охрана материнства и детства 2012; 2(20): 113-118.; Кустова Т.В., Таранушенко Т.Е., Демьянова И.М. Оценка психомоторного развития ребенка раннего возраста: что должен знать врач-педиатр. Медицинский совет 2018; 11: 104-109.; Казьмина Л.В., Казьмин А.М. Дневник развития ребенка от рождения до трех лет. М.: Когито-Центр, 2008; 74 с.; Nguefack S., Ananfack E.G., Mah E., Kago D., Tatah S., Yolande F.P. et al. Psychomotor Development of Children Born Premature at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (Cameroon). Open J Pediatr 2020; 10: 147- 158. DOI:10.4236/ojped.2020.101014; Espinoza Diaz C. I., Amaguaya G., Culqui M., Espinosa J., Acosta J., Procel A. et al. Prevalence, risk factors and clinical characteristics of infantile cerebral palsy. Archivos Venezolanos de Farmacología y Terapéutica. 2019; 38 (6): 778-789; Blank R., Smits-Engelsman B., Polatajko H., Wilson P. European Academy for Childhood Disability. European Academy for Childhood Disability (EACD): recommendations on the definition, diagnosis and intervention of developmental coordination disorder (long version). Dev Med Child Neurol 2012; 54(1): 54-93. DOI:10.1111/j.1469-8749.2011.04171.x; Salih M. Clinical Child Neurology. Cite as Neurological Evaluation of Infants and Children. Springer Nature Switzerland AG, 2020; 1-28. DOI:10.1007/978-3-319-43153-6; Katz K., Rosenthal A., Yosipovitch Z. Normal ranges of popliteal angle in children. J Pediatr Orthop 1992; 12(2): 229-231. DOI:10.1097/01241398-199203000-00014; Salandy S., Rai R., Gomez S., Ishak B., Tubbs R. Neurological examination of the infant. Clin Anatomy 2019; 32(6): 217-234. DOI:10.1002/ca.23352; Шайтор В.М., Емельянов В.Д. Диспраксия у детей. М.: ГЭОТАР-Медиа, 2017; 112 с.; US National Library of Medicine. Genetics Home Reference: DMD gene. 2017. Available from: https://ghr.nlm.nih.gov/gene/DMD. Ссылка активна на 29.08.2022; Birnkrant D.J., Bushby K., Bann C.M., Apkon S.D., Blackwell A., Colvin M.K. et al. for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol 2018; 17(5): 445-455. Published online January 23, 2018; 11. DOI:10.1016/S1474- 4422(18)30026-7; Manning M., Hudgins L. Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010; 12(11): 742-745. DOI:10.1097/GIM.0b013e3181f8baad; Law E., Fisher E., Eccleston C., Palermo T.M. Psychological interventions for parents of children and adolescents with chronic illness. Cochrane Database Syst Rev 2019; 3: CD009660. DOI:10.1002/14651858.CD009660.pub4; https://www.ped-perinatology.ru/jour/article/view/1730

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1730
https://doi.org/10.21508/1027-4065-2022-67-5-225-230

المؤلفون: Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Mariya S. Karaseva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina, Artur V. Zaz’yan, Ю. Г. Левина, Н. Д. Вашакмадзе, Л. С. Намазова-Баранова, Е. А. Вишнева, М. С. Карасева, Н. В. Журкова, К. Е. Эфендиева, А. А. Алексеева, В. Г. Калугина, А. В. Зазьян

المصدر: Pediatric pharmacology; Том 19, № 3 (2022); 250-257 ; Педиатрическая фармакология; Том 19, № 3 (2022); 250-257 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: клинический случай, Hunter syndrome, enzyme replacement therapy, idursulfase, idursulfase beta, drug allergy, urticaria, children, clinical case, тип II, синдром Хантера, ферментозаместительная терапия, идурсульфаза, идурсульфаза бета, лекарственная аллергия, крапивница, дети

وصف الملف: application/pdf

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https://doi.org/10.15690/pf.v19i3.2438