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1Academic Journal
Authors: Pokhylko, V., Kovalova, O., Cherniavska, Yu., Bohoutdinov, I., Soloviova, G.
Source: Neonatology, surgery and perinatal medicine; Том 9, № 2(32) (2019): NEONATOLOGY, SURGERY AND PERINATAL MEDICINE; 99-104
Неонатологія, хірургія та перинатальна медицина; Том 9, № 2(32) (2019): НЕОНАТОЛОГІЯ, ХІРУРГІЯ ТА ПЕРИНАТАЛЬНА МЕДИЦИНА; 99-104
Неонатология, хирургия и перинатальная медицина; Том 9, № 2(32) (2019): НЕОНАТОЛОГИЯ, ХИРУРГИЯ И ПЕРИНАТАЛЬНАЯ МЕДИЦИНА; 99-104Subject Terms: 2. Zero hunger, Congenital Chylothorax, Premature Child, Conservative Treatment, Enteral Nutrition, Middle Chain Triglycerides, врождённый хилоторакс, преждевременно рождённый ребёнок, консервативное лечение, энтеральное питание, среднецепочечные триглицериды, вроджений хілоторакс, передчасно народжена дитина, консервативне лікування, ентеральне харчування, середньоланцюгові тригліцериди, 3. Good health
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2Academic Journal
Authors: A. V. Degtyareva, I. V. Nikitina, I. V. Orlovskaya, E. Yu. Zakharova, G. V. Baidakova, O. V. Ionov, D. Yu. Amirkhanova, A. V. Levadnaya, А. В. Дегтярева, И. В. Никитина, И. В. Орловская, Е. Ю. Захарова, Г. В. Байдакова, О. В. Ионов, Д. Ю. Амирханова, А. В. Левадная
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 4 (2014); 41-47 ; Российский вестник перинатологии и педиатрии; Том 59, № 4 (2014); 41-47 ; 2500-2228 ; 1027-4065 ; undefined
Subject Terms: среднецепочечные триглицериды, neonatal infants, mitochondrial β-oxidation, very long-chain acyl-coenzyme A dehydrogenase deficiency, arrhythmias, acylcarnitines, free carnitine, treatment, medium-chain triglycerides, новорожденные, митохондриальное β-окисление, дефицит ацил-коэнзим А дегидрогеназы жирных кислот с очень длинной углеродной цепью, аритмии, ацилкарнитины, свободный карнитин, лечение
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Relation: https://www.ped-perinatology.ru/jour/article/view/57/101; Leslie N.D., Tinkle B.T., Strauss A.W. et al. Very Long- Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews® [Internet]. University of Washington, Seattle, 1993—2014. http://www.ncbi.nlm.nih.gov/books/NBK6816/; Georgianne L.A., Van Hove J., Freedenberg D. et al. Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2009; 96: 3: 85—90.; Boneh A., Andresen B.S., Gregersen N. et al. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 2006; 88: 2: 166—170.; Wilcken B., Wiley V., Hammond J. et al. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003; 348: 2304—2312.; McHugh D., Cameron C.A., Abdenur J.E. et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011; 13: 3: 230—254.; Николаева Е.А, Шулякова И.В, Цыганкова П.Г. и др. Сим- птоматическая эпилепсия как проявление дефицита ацил-КоА дегидрогеназы жирных кислот с очень длинной углеродной цепью. Рос вестн перинатол и педиат 2008; 3: 87—91. (Nikolaeva E.А, SHulyakova I.V, TSygankova P.G. et al. Symptomatic epilepsy as a manifestation of very long-chain acyl-CoA dehydrogenase deficiency. Ros vestn perinatol i pediat 2008; 3: 87—91.); Strauss A.W., Powell C.K., Hale D.E. et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 1995; 92: 10496—10500.; Andresen B.S., Olpin S., Poorthuis BJ. et al. Clear correlation of genotype with disease phenotype in very long-chain acyl CoA dehydrogenase deficiency. Am J Hum Genet 1999; 64: 479—494.; Spiekerkoetter U., Lindner M., Santer R. et al. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 2009; 32: 498—505.; Ørngreen M.C., Nørgaard M.G., Sacchetti M. et al. Fuel utilization in patients with very long chain acyl-СoА dehydrogenase deficiency. Ann Neurol 2004; 56: 279—283.; Keeler М.А., Conlon Т., Walter G. et al. Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy. Mol Ther 2012; 20: 6: 1131—1138.; Smelt A.H., Poorthuis B.J., Onkenhout W. et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset Ann Neurol 1998; 43: 540—544.; Gregersen N., Andresen B.S., Corydon M.J. et al. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 2001; 18: 169—189.; Vianey-Saban C., Divry P., Brivet M. et al. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 1998; 269: 43—62.; Mathur A., Sims H.F., Gopalakrishnan D. et al. Molecular heterogeneity in very long chain acyl CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 1999; 99: 1337—1343.; Liang W.-C., Nishino I. State of the art in muscle lipid diseases. Acta Myol 2010; 29: 2: 351—356.; Tucci S., Primassin S., Veld F. et al. Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in verylong chain acyl-CoA dehydrogenase (VLCAD)-deficient mice. Mol Genet Metab 2010; 101: 40—47.; Tucci S., Flögel U., Sturm M. et al. Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a β-oxidation defect. Am J Clin Nutr 2011; 94: 439—449.; Botkin J.R., Clayton E.W., Fost N.C. et al. Newborn screening technology: proceed with caution. Comment on: A Report of the American College of Medical Genetics. Report titled Newborn Screening: Toward a Uniform Screening Panel and System, Submitted as public comment. Pediatrics 2006; 117: 5: 1793—1799.; Bechthold A. Die Referenzwerte fur die Nаhrstoffzufuhr. German/Austrian/Swiss Nutrition Societies. Ernährungs Umschau 2009; 6: 346—353.; Liebig M., Gyenes M., Brauers G. Carnitine supplementation induces long-chain acylcarnitine production - studies in the VLCAD-deficient mouse. J Inherit Metab Dis 2006; 29: 343— 344.; Primassin S., Ter V.F., Mayatepek E. et al. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenasedeficient mice, without replenishing low free carnitine. Pediat Res 2008; 63: 632—637.; undefined
Availability: https://www.ped-perinatology.ru/jour/article/view/57
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3Academic Journal
Authors: Багателия С.А., Королева Т.А., Мамедова С.Г., Попова Т.В.
Source: Известия ГГТУ. Медицина, фармация
Subject Terms: biologically active additive, cholecalciferol, Medium-chain triglycerides, биологически активная добавка, холекальциферол, среднецепочечные триглицериды
Availability: https://repository.rudn.ru/records/article/record/87222/