المؤلفون: S. N. Stavtseva, E. A. Nikolaeva, V. S. Sukhorukov, С. Н. Ставцева, Е. А. Николаева, В. С. Сухоруков

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 3 (2014); 39-43 ; Российский вестник перинатологии и педиатрии; Том 59, № 3 (2014); 39-43 ; 2500-2228 ; 1027-4065 ; undefined

مصطلحات موضوعية: коэнзим Qlg лечение, Down's syndrome, oxidative stress, mitochondrial dysfunction, coenzyme Qlc, treatment, синдром Дауна, окислительный стресс, митохондриальная дисфункция

وصف الملف: application/pdf

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الاتاحة: https://www.ped-perinatology.ru/jour/article/view/254

المؤلفون: E. A. Nikolaeva, M. N. Kharabadze, I. V. Zolkina, T. E. Kulagina, T. N. Vasina, S. N. Stavtseva, P. B. Glagovsky, I. S. Mamedov, P. V. Novikov, Е. А. Николаева, М. Н. Харабадзе, И. В. Золкина, Т. Е. Кулагина, Т. Н. Васина, С. Н. Ставцева, П. Б. Глаговский, И. С. Мамедов, П. В. Новиков

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 60, № 5 (2015); 71-75 ; Российский вестник перинатологии и педиатрии; Том 60, № 5 (2015); 71-75 ; 2500-2228 ; 1027-4065 ; undefined

مصطلحات موضوعية: диагностика, mitochondrial diseases, neurodegenerative diseases, coenzyme Qw, cholesterol, diagnosis, митохондриальные болезни, нейродегенеративные болезни, коэнзим Qw холестерин

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/158/199; Goldstein А.С., Bhatia P., Vento J.M. Mitochondrial Disease in Childhood: Nuclear Encoded. Neurotherapeutics 2013; 10: 2: 212-226.; Saneto R, Sedensky M.M. Mitochondrial Disease in Childhood: mtDNA Encoded. Neurotherapeutics 2013; 10:2:199-211.; Garrido-MaraverJ., CorderoM.D., Oropesa-AvilaM. et al. Co-enzyme Q10 Therapy. Mol Syndromol 2014; 5: 3-4: 187-197.; Ernster L., DallnerG. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1995; 1271: 195-204.; Crane F.L. Biochemical functions of coenzyme Q1(%7C. J Am Coll Nutr2001; 20: 6: 591-598.; Quinzii C. V., Hirano M., DiMauro S. CoQ10 deficiency diseases in adults. Mitochondrion 2007; 7: Suppl: 122—126.; Frei В., Kim M., Ames B.N. Ubiquinol-10 is an elective lipid-soluble antioxidant at physiological concentrations. Proc Natl Acad Sci 1990; 87: 4879-4883.; Molyneux S.L., Yong J.M., Florkowski CM. et al. Coenzyme Q10: is there a clinical role and a case for measurement? Clin Biochem Rev 2008; 29: 71-82.; Menke Т., Niklowitz P., Schlater B. et al. Plasma levels and re-dox status of coenzyme Q1(%7C in infants and children. Biofactors 2004; 20: 173-181.; Hargreaves I.P. Coenzyme Q1(%7C in phenylketonuria and meva-lonic aciduria. Mitochondrion 2007; 7: (1): 175-180.; Quinzii C.V., DiMauro S., Hirano M. Human coenzyme Q1(] deficiency. Neurochem Res 2007; 32: 723-727.; Artuch R., Salviati L., Jackson S. et al. Coenzyme Q1(%7C: Deficiencies in Neuromuscular Diseases. Adv Exp Med Biol 2009; 652: 117-128.; Emmanuele V., Lopez L.C., Berardo A. et al. Heterogeneity of coenzyme Q1(%7C deficiency: Patient Study and Literature Review. Arch Neural 2012; 69: 8: 978-983.; Николаева E.A., Мамедов И.С Дефицит коэнзима Q1(]у детей: клинико-генетические варианты, диагностика и лечение. Рос вестн перинатол и педиат 2012; 2: 77—83.; Zierz S., Jahns G, Jerusalem F. Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. JNeurol 1989; 236:2: 97-101.; Matsuoka Т., Maeda H., Goto Y., Nonaka I. Muscle coenzyme Q1(%7C in mitochondrial encephalomyopathies. Neuromuscul Disord 1991; 1: 6: 443-447.; Montero R., Artuch R., Briones P. et al. Muscle coenzyme Q1(] concentrations in patients with probable and definite diagnosis of respiratory chain disorders. Biofactors 2005; 25: 1-4; 115.; Miles M.V., Miles L., Tang P.H. et al. Systematic evaluation of muscle coenzyme Qlo content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008; 8: 170-180.; Sacconi S., Trevisson E., Salviati L. et al. Coenzyme Q1(%7C is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord 2010; 20: 44-48.; Montero R., Grazina M. Lopez-Gallardo E. et al. Coenzyme Q1(] deficiency in mitochondrial DNA depletion syndromes. Mitochondrion 2013; 13: 4: 337-341.; https://www.ped-perinatology.ru/jour/article/view/158; undefined

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/158

المؤلفون: T. I. Chernikova, L. A. Shepilov, T. N. Vasina, T. I. Zubtsova, S. N. Stavtseva, A. V. Vislobokov, Т. И. Черникова, Л. А. Шепилов, Т. Н. Васина, Т. И. Зубцова, С. Н. Ставцева, А. В. Вислобоков

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 5 (2014); 59-62 ; Российский вестник перинатологии и педиатрии; Том 59, № 5 (2014); 59-62 ; 2500-2228 ; 1027-4065 ; undefined

مصطلحات موضوعية: эпилептический синдром, dermatoses, epidermis, Bloch—Sulzberger syndrome, incontinentia pigmenti, epilepsy syndrome, дерматозы, эпидермис, синдром Блоха—Сульцбергера, синдром недержания пигмента

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/237/276; Хегер Петер Г. Детская дерматология. Пер. с нем. Под ред. А.А. Кубановой, А.Н. Львова. М: БИНОМ. Лаборатория знаний 2013; 77—78. (Heger P.G. Pediatric dermatology. Trans, from Ger. A.A. Cubanova, A.N. Lvov (eds.). M: BINOM. Knowledge Laboratory 2013; 77—78.); Воинова В.М., Новиков П.В., Казанцева Л.Н. Синдром Блоха—Сульцбергера у детей. Рос вестн перинатол и педиат 1999; 5: 25—28. (Voinova V.M., Novikov P.V., Kazantseva L.N. Bloch-Sulzberger syndrome in children. Ros vestnperinatal i pediat 1999, 5: 25—28.); Детская дерматология. Справочник под ред. Д.П. Кроу-гука, А.Дж. Мангини, пер. с англ. Под ред. H.L. Короткого. М: Практ мед 2010; 468—473. Pediatric Dermatology.; A Handbook. Transl. from English. N.G. Korotkij (ed.). M: Prakti med 2010; 468—473.); Зверькова Ф.А. Болезни кожи детей раннего возраста. Ст-Петербург 1994; 131—135. (Zverkova F.A. Diseases of the skin in infants. St-Petersburg 1994; 131—135.); Козявин A.B. www.medico.ru, 10.04.2008. (Kozyavin A.V. www.medico.ru, 10.04.2008.); Козлова СИ., Демикова Н.С. Наследственные синдромы и медико-генетическое консультирование. М: Т-во научных изданий КМК; Авторская академия, 2007; 179—181. (Kozlova S.I.,DemikovaN.S. Hereditary syndromes andgenetic counseling. M: T-vo nauchnykh izdanij KMK; Avtorskaya akademiya, 2007; 179-181.); https://www.ped-perinatology.ru/jour/article/view/237; undefined

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/237