1. Coppola G., Veggiotti P., Cusmai R. et al. The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience. Epilepsy Res. 2002; 48(3): 221 - 227. doi: 10.1016/s0920-1211(01)00315-1
2. Усачева Е.Л., Айвазян С.О., Сорвачева Т.Н., Пырьева Е.А., Шорина М.Ю. Применение кетогенной диеты в лечении фармакорезистентных эпилепсий. Журнал неврологии и психиатрии им. С.С. Корсакова. 2004; 7: 29 - 34.
3. Сорвачева Т.Н., Пырьева Е.А., Конь И.Я., Усачева Е.Л., Айвазян С.О., Шорина М.Ю. Кетогенная диета в комплексном лечении фармакорезистентных форм эпилепсии у детей: клиническая оценка эффективности. Педиатрия. 2003; 2: 41 - 45.
4. Stafstrom C.E. Dietary approaches to epilepsy treatment: old and new options on the menu. Epilepsy Curr. 2004; 4(6): 215 - 222. doi: 10.1111/j.1535-7597.2004. 46001.x
5. National Library of Medicine, Genetics Home Reference your Guide to Understanding Genetic Conditions, GLUT1 deficiency syndrome. 2014.
6. Cheng C.M., Hicks K., Wang J., Eagles D.A., Bondy C.A. Caloric restriction augments brain glutamic acid decarboxylase-65 and -67 expression. J Neurosci Res. 2004; 77(2): 270 - 276. doi: 10.1002/jnr.20144
7. Coman D.J., Sinclair K.G., Burke C.J., Appleton D.B. et al. Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. J Paediatr Child Health. 2006 May; 42(5): 263 - 7. doi: 10.1111/j.1440-1754.2006.00852.x.
8. Larsen J., Johannesen K.M., Ek J., Tang S. et al. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia. 2015 Dec; 56(12): e203-8. doi: 10.1111/epi.13222.
9. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype. Epilepsy Behav. 2017; 70 (Pt A): 1 - 4. doi: 10.1016/j.yebeh.2017.02.016
10. Ivanova N, Peycheva V, Kamenarova K, et al. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. Seizure. 2018; 54: 41 - 44. doi: 10.1016/j.seizure.2017.11.014
11. Liu Y, Bao X, Wang D, et al. Allelic variations of glut-1 deficiency syndrome: the chinese experience. Pediatr Neurol. 2012; 47(1): 30 - 34. doi: 10.1016/j.pediatrneurol.2012.04.010
12. Weber Y.G., Kamm C., Suls A. et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology. 2011; 77(10): 959 - 964. doi: 10.1212/WNL.0b013e31822e0479
13. Klepper J., Voit T. Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review. Eur J Pediatr. 2002; 161(6): 295 - 304. doi: 10.1007/s00431-002-0939-3
14. Morris A.A. Cerebral ketone body metabolism. J Inherit Metab Dis. 2005; 28(2): 109 - 121. doi: 10.1007/s10545-005-5518-0
15. Chinnery P.F. Defining neurogenetic phenotypes (or how to compare needles in haystacks). Brain. 2010; 133 (Pt3): 649 - 651. doi: 10.1093/brain/awq027
16. Leen W.G., Klepper J., Verbeek M.M. et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010; 133 (Pt 3): 655 - 670. doi: 10.1093/brain/awp336
17. Yang H., Wang D., Engelstad K. et al. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011; 70(6): 996 - 1005. doi: 10.1002/ana.22640
18. Wang D., Pascual J.M., De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews(R). Seattle (WA): University of Washington, Seattle; July 30, 2002 (last update March 3, 2018)
19. Лукьянова Е.Г., Айвазян С.О., Осипова К.В., Пырьева Е.А., Сорвачева Т.Н. Опыт применения кетогенной диеты у пациентов с синдромом дефицита транспортера глюкозы I типа (клиническое наблюдение)/Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски. 2015. - Т. 115(5 - 2). - С. 53 - 60. - doi: 10.17116/jnevro20151155253-60.
20. Zorzi G., Castellotti B., Zibordi F., Gellera C., Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology. 2008; 71(2): 146 - 148. doi: 10.1212/01.wnl.0000316804.10020.ba
21. Urbizu A., E., Raspall-Chaure M. et al. Paroxysmal exercise-induced dyskinesia, writer"s cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J Neurol Sci. 2010; 295(1 - 2): 110 - 113. doi: 10.1016/j.jns.2010.05.017
22. De Vivo D.C., Wang D. Glut1 deficiency: CSF glucose. How low is too low?. Rev Neurol (Paris). 2008; 164(11): 877 - 880. doi: 10.1016/j.neurol.2008.10.001
23. Overweg-Plandsoen W.C., Groener J.E., Wang D. et al. GLUT-1 deficiency without epilepsy--an exceptional case. J Inherit Metab Dis. 2003; 26(6): 559 - 563. doi: 10.1023/a: 1025999914822
24. Yamada K, Ji JJ, Yuan H, Miki T, Sato S, Horimoto N, Shimizu T, Yudkoff M, Daikhin Y, Nissim I, Lazarow A. Brain amino acid metabolism and ketosis. The Journal of Neuroscience Journal of Neuroscience Research. 2001; 66: 272 - 281.
25. Leen W.G., Wevers R.A., Kamsteeg E.J., Scheffer H,. Verbeek MM, Willemsen MA. Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review. JAMA Neurol. 2013; 70(11): 1440 - 1444. doi: 10.1001/jamaneurol.2013.3090
26. Klepper J, Akman C, Armeno M, et al. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open. 2020; 5(3): 354 - 365. Published 2020 Aug 13. doi: 10.1002/epi4.12414
27. Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. 2012; 53(9): 1503 - 1510. doi: 10.1111/j.1528-1167.2012.03592.x
28. Wolking S, Becker F, Bast T, et al. Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature. J Neurol. 2014; 261(10): 1881 - 1886. doi: 10.1007/s00415-014-7433-5
29. Peeraer A, Damiano JA, Bellows ST, et al. Evaluation of GLUT1 variation in non-acquired focal epilepsy. Epilepsy Res. 2017; 133: 54 - 57. doi: 10.1016/j.eplepsyres.2017.04.007
30. Pearson T.S., Pons R., Engelstad K., Kane S.A., Goldberg M.E., De Vivo D.C. Paroxysmal eye-head movements in Glut1 deficiency syndrome. Neurology. 2017; 88(17): 1666 - 1673. doi: 10.1212/WNL.0000000000003867.
31. Leary L.D., Wang D., Nordli D.R. Jr, Engelstad K., De Vivo D.C. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia. 2003; 44(5): 701 - 707. doi: 10.1046/j.1528-1157.2003.05302.x
32. Vining E.P., Freeman J.M., Ballaban-Gil K. et al. A multicenter study of the efficacy of the ketogenic diet. Arch Neurol. 1998; 55(11): 1433 - 1437. doi: 10.1001/archneur.55.11.1433
33. Усачева Е.Л., Айвазян С.О., Сорвачева Т.Н., Пырьева Е.А., Конь И.Я., Притыко А.Г., Шорина М.Ю., Осипова К.В. Кетогенная диета в лечении фармакорезистентных эпилепсий. Лечащий врач. 2004; 5: 46 - 50.
34. Кетогенная диета в лечении фармакорезистентных эпилепсий: показания к применению, критерии эффективности, осложнения: Методические рекомендации N 7, Правительство Москвы, Департамент здравоохранения. М.; 2005; 20.
35. Striano P., Weber Y.G., Toliat M.R. et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology. 2012; 78(8): 557 - 562. doi: 10.1212/WNL.0b013e318247ff54
36. Klepper J., Fischbarg J., Vera J.C., Wang D., De Vivo D.C. GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr Res. 1999; 46(6): 677 - 683. doi: 10.1203/00006450-199912000-00006
37. Pons R., Collins A., Rotstein M., Engelstad K., De Vivo DC. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord. 2010; 25(3): 275 - 281. doi: 10.1002/mds.22808
38. Pearson T.S., Akman C., Hinton V.J., Engelstad K., De Vivo D.C. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013; 13(4): 342. doi: 10.1007/s11910-013-0342-7
39. Alter A.S., Engelstad K., Hinton V.J. et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol. 2015; 30(2): 160 - 169. doi: 10.1177/0883073814531822
40. Hully M, Vuillaumier-Barrot S, Le Bizec C, et al. From splitting GLUT1 deficiency syndromes to overlapping phenotypes. Eur J Med Genet. 2015; 58(9): 443 - 454. doi: 10.1016/j.ejmg.2015.06.007
41. Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009; 31(7): 545 - 552. doi: 10.1016/j.braindev.2009.02.008
42. Ito Y, Takahashi S, Kagitani-Shimono K, et al. Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev. 2015; 37(8): 780 - 789. doi: 10.1016/j.braindev.2014.11.006
43. Willemsen MA, Vissers LE, Verbeek MM, et al. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome. Eur J Hum Genet. 2017; 25(6): 771 - 774. doi: 10.1038/ejhg.2017.45
44. Friedman JR, Thiele EA, Wang D, et al. Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006; 21(2): 241 - 245. doi: 10.1002/mds.20660
45. Ebrahimi-Fakhari D., Pearl P.L. Movement disorders and inherited metabolic disorders - recognition, understanding, improving outcomes. - Cambridge University Press. - 2020. - 442 p.
46. Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. GLUT1 deficiency syndrome into adulthood: a follow-up study. J Neurol. 2014; 261(3): 589 - 599. doi: 10.1007/s00415-014-7240-z
47. B., Prior C., Ma Q. et al. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch Neurol. 2009; 66(11): 1410 - 1414. doi: 10.1001/archneurol.2009.236
48. Suls A., Dedeken P., Goffin K. et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008; 131 (Pt 7): 1831 - 1844. doi: 10.1093/brain/awn113
49. Weber Y.G., Storch A., Wuttke T.V. et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008; 118(6): 2157 - 2168. doi: 10.1172/JCI34438.
50. Айвазян С.О., Лукьянова Е.Г., Ширяев Ю.С. Немедикаментозные методы лечения фармакорезистентной эпилепсии у детей. Эпилепсия и пароксизмальные состояния. 2014; 6: 1: 34 - 43.
51. Pascual J.M., Wang D., Yang R., Shi L., Yang H., De Vivo D.C. Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. J Biol Chem. 2008; 283(24): 16732 - 16742. doi: 10.1074/jbc.M801403200
52. Wang D., Yang H., Shi L. et al. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. Pediatr Res. 2008; 64(5): 538 - 543. doi: 10.1203/PDR.0b013e318184d2b5
53. Klepper J., Scheffer H., Leiendecker B. et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics. 2005; 36(5): 302 - 308. doi: 10.1055/s-2005-872843
54. Wang D., Pascual J.M., Yang H. et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005; 57(1): 111 - 118. doi: 10.1002/ana.20331
55. De Vivo D.C., Bohan T.P., Coulter D.L. et al. L-carnitine supplementation in childhood epilepsy: current perspectives. Epilepsia. 1998; 39(11): 1216 - 1225. doi: 10.1111/j.1528-1157.1998.tb01315.x
56. De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991; 325(10): 703 - 709. doi: 10.1056/NEJM199109053251006
57. Pike M. Opsoclonus-myoclonus syndrome. Handb Clin Neurol. 2013; 112: 1209 - 1211. doi: 10.1016/B978-0-444-52910-7.00042-8
58. Тутельян В.А., Батурин А.К., Гаппаров М.Б. и др. Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации. 2009; МР 2.3.1.2432-08. - 40 с.
59. Wang D., Ho Y-Y, Pascual J.M., Hinton V. et al. GLUT1 deficiency syndrome: R333W genotype and paternal mosaicism. Ann Neurol. 2001; 50: S124.
60. Klepper J., Scheffer H., Elsaid M.F., Kamsteeg E.J. et al. Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics. 2009; 40(5): 207 - 210. doi: 10.1055/s-0030-1248264
61. Rotstein M., Engelstad K., Yang H. et al. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010; 68(6): 955 - 958. doi: 10.1002/ana.22088
62. Freeman J., Veggiotti P., Lanzi G., Tagliabue A., Perucca E. The ketogenic diet: from molecular mechanisms to clinical effects. Epilepsy Research. 2006; 68: 145 - 180. doi: 10.1016/j.eplepsyres.2005.10.003.
63. Roubergue A., Apartis E., Mesnage V. et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis. 2011; 34(2): 483 - 488. doi: 10.1007/s10545-010-9264-6
64. Pascual JM, Ronen GM. Glucose Transporter Type I Deficiency (G1D) at 25 (1990 - 2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease. Pediatr Neurol. 2015; 53(5): 379 - 393. doi: 10.1016/j.pediatrneurol.2015.08.001
65. Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Айвазян С.О., Осипова К.В., Сушко Л.М., Лукьянова Е.Г., Притыко А.Г. Синдром дефицита транспортера глюкозы I типа (болезнь де Виво): клинические и генетические аспекты. Медицинская генетика. 2016; 15(7): 28 - 32. https://doi.org/10.1234/XXXX-XXXX-2016-7-28-32
66. Shibata T, Kobayashi K, Yoshinaga H, Ono H, Shinpo M, Kagitani-Shimono K. Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia. Neuropediatrics. 2017; 48(5): 390 - 393. doi: 10.1055/s-0037-1603520
67. Lukyanova E.G., Sushko L.M., Ayvazyan S.O., Osipova K.V., Pyreva E.A., Sorvacheva T.N., Zhilina S.S., Kozhanova T.V., Mescheryakova T.I. Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) and using Ketogenic Diet in Treatment of De Vivo Disease: A Case Reports. Glob J Intellect Dev Disabil 2(3) 2017: 71 - 77.
68. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology. 2010; 75(5): 432 - 440. doi: 10.1212/WNL.0b013e3181eb58b4
69. Kossoff E.H., Zupec-Kania B.A., Auvin S. et al. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018; 3(2): 175 - 192. Published 2018 May 21. doi: 10.1002/epi4.12225
70. Van der Louw E, van den Hurk D, Neal E, et al. Ketogenic diet guidelines for infants with refractory epilepsy. Eur J Paediatr Neurol. 2016; 20(6): 798 - 809. doi: 10.1016/j.ejpn.2016.07.009
71. Klepper J., Leiendecker B., Kossoff E.H. Pocket guide to the ketogenic diet. SPS publications, 54 p
72. Zupec-Kania B., Vanatta L., Johnson M. Ketogenic diet therapies for neurological disorders pocket guide for medical professionals. The Charlie foundation for ketogenic therapies 2018.
73. Vaudano A.E., Olivotto S., Ruggieri A. et al. Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome. Neuroimage Clin. 2016; 13: 446 - 454. Published 2016 Dec 21. doi: 10.1016/j.nicl.2016.12.026
74. Ismayilova N, Hacohen Y, MacKinnon AD, Elmslie F, Clarke A. GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging. Eur J Paediatr Neurol. 2018; 22(6): 1161 - 1164. doi: 10.1016/j.ejpn.2018.02.002
75. Zeng W., Xing Z., Tan M. et al. Propofol regulates activated macrophages metabolism through inhibition of ROS-mediated GLUT1 expression. Inflamm. Res. 70, 473 - 481 (2021). doi: 10.1007/s00011-021-01449-y
76. Schiller K., Avigdor T., Kortas A., Kunz M. et al. Monitoring Glucose Concentrations in Children with Epilepsy on a Ketogenic Diet. Healthcare (Basel). 2022 Jan 27; 10(2): 245. doi: 10.3390/healthcare10020245
77. Ketogenic diet - managing complications, version 1. Cambridge University Hospitals NHS Foundation Trust, 12 p
78. Baumeister FA, Oberhoffer R, Liebhaber GM, et al. Fatal propofol infusion syndrome in association with ketogenic diet. Neuropediatrics. 2004; 35(4): 250 - 252. doi: 10.1055/s-2004-820992
79. Yudkoff M., Daikhin Y., Nissim I., Lazarow A., Nissim I. Brain amino acid metabolism and ketosis. J Neurosci Res. 2001; 66(2): 272 - 281. doi: 10.1002/jnr.1221
80. Akman C.I., Provenzano F., Wang D. et al. Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency. Epilepsy Res. 2015; 110: 206 - 215. doi: 10.1016/j.eplepsyres.2014.11.007
81. Ruiz Herrero J., Villarroya E., L. et al. Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases. Nutrients. 2021 Mar 4; 13(3): 840. doi: 10.3390/nu13030840.
82. Butte NF, Watson KB, Ridley K, et al. A Youth Compendium of Physical Activities: Activity Codes and Metabolic Intensities. Med Sci Sports Exerc. 2018; 50(2): 246 - 256. doi: 10.1249/MSS.0000000000001430
83. Daci A, Bozalija A, Jashari F, Krasniqi S. Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency. Int J Mol Sci. 2018; 19(1): 122. Published 2018 Jan 5. doi: 10.3390/ijms19010122
84. Adeva-Andany MM, C, D, Castro-Quintela E, A. Sodium bicarbonate therapy in patients with metabolic acidosis. ScientificWorldJournal. 2014; 2014: 627673. doi: 10.1155/2014/627673
85. Gras D, Roze E, Caillet S, A, Doummar D, Billette de Villemeur T, Vidailhet M, Mochel F. GLUT1 deficiency syndrome: an update. Rev Neurol (Paris). 2014 Feb; 170(2): 91 - 9. doi: 10.1016/j.neurol.2013.09.005.
86. Ho Y.Y., Yang H, Klepper J, Fischbarg J. et al. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr Res. 2001; 50(2): 254 - 260. doi: 10.1203/00006450-200108000-00015
87. Brockmann K., Wang D., Korenke C.G. et al. Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol. 2001; 50(4): 476 - 485. doi: 10.1002/ana.1222
88. Liu YY, Bao XH, Wang S, Fu N, Liu XY, Song FY, Yang YL, Wu Y, Zhang YH, Wu JX, Jiang YW, Qin J, Wu XR. [Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome]. Zhonghua Er Ke Za Zhi. 2013 Jun; 51(6): 443 - 7. Chinese. PMID: 24120063.
89. Blau N., Hoffmann G.F., Leonard J., Clarke J.T.R. Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases. - 2006 - Springer - 404 p.
90. A, Roze E. GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders? Mov Disord Clin Pract. 2019 Mar 28; 6(4): 277 - 279. doi: 10.1002/mdc3.12754.
91. Berry-Kravis E., Booth G., Sanchez A.C., Woodbury-Kolb J. Carnitine levels and the ketogenic diet. - 2001 - Epilepsia - 42(11): 1445 - 1451
92. Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [Updated 2018 Mar 1]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2023.
93. Кулиш Е.А., Котов А.С., Мухина Е.В. и др. Синдром дефицита транспортера глюкозы I типа: клинический случай. Русский журнал детской неврологии 2019; 14(2): 23 - 8
94. Ito Y, Oguni H, Ito S, Oguni M, Osawa M. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol. 2011; 53(7): 658 - 663. doi: 10.1111/j.1469-8749.2011.03961.x
95. Tzadok M, Nissenkorn A, Porper K, et al. The many faces of Glut1 deficiency syndrome. J Child Neurol. 2014; 29(3): 349 - 359. doi: 10.1177/0883073812471718
96. Лукьянова Е.Г., Айвазян С.О., Осипова К.В., Пырьева Е.А., Сорвачева Т.Н. Опыт применения кетогенной диеты у пациентов с синдромом дефицита транспортера глюкозы I типа (клиническое наблюдение). Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски. 2015; 115(5 - 2): 53 - 60.
97. Zanaboni MP, Pasca L, Geraci MA, Varesio C, Guglielmetti M, Tagliabue A, Grumi S, De Giorgis V. Case report: KETOLAND the psychoeducation program for ketogenic diet. Front Psychiatry. 2023 Jun 8; 14: 1155717. doi: 10.3389/fpsyt.2023.1155717.
98. Winczewska-Wiktor A, Hoffman-Zacharska D, Starczewska M, Kaczmarek I, Badura-Stronka M, Steinborn B. Variety of symptoms of GLUT1 deficiency syndrome in three-generation family. Epilepsy Behav. 2020 May; 106: 107036. doi: 10.1016/j.yebeh.2020.107036. Epub 2020 Apr 1. PMID: 32247176.
99. Diaz-Arias LA, Henry-Barron BJ, Buchholz A, Cervenka MC. Positive impact of a modified Atkins diet on cognition, seizure control, and abnormal movements in an adult with glucose transporter type 1 deficiency syndrome: case report. Neurol Sci. 2022 May; 43(5): 3449 - 3452.
100. Hussain N., Khan A., Kearns J., Samanta R., Wilford E. Management of children on ketogenic diet for epilepsy. 12.2022.
101. Kloka J., Kranepuhl S., Zacharowski K., Raimann F.J. Total Intravenous Anesthesia in GLUT1 Deficiency Syndrome Patient: A Case Report. Am J Case Rep. 2019 May 5; 20: 647 - 650.
102. Van S, Lam V, Patel K, Humphries A, Siddiqi J. Propofol-Related Infusion Syndrome: A Bibliometric Analysis of the 100 Most-Cited Articles. Cureus. 2023 Oct 4; 15(10): e46497
103. Singh A, Anjankar AP. Propofol-Related Infusion Syndrome: A Clinical Review. Cureus. 2022 Oct 17; 14(10): e 30383
104. https://grls.minzdrav.gov.ru/
105. Kolic I, Radic Nisevic J, Vlasic Cicvaric I, Butorac Ahel I, Lah Tomulic K, Segulja S, Baraba Dekanic K, Serifi S, Ovuka A, Prpic I. GLUT1 Deficiency Syndrome-Early Treatment Maintains Cognitive Development? (Literature Review and Case Report). Genes (Basel). 2021 Aug 31; 12(9): 1379
106. Phillips, Matthew. (2019). Ketogenic Diet Therapies in Children and Adults with Epilepsy. 10.5772/intechopen.83711.
107. Belousova ED. Snizhenie kontsentratsii karnitina u patsientov s [The decreased level of plasma carnitine in patients with epilepsy]. Zh Nevrol Psikhiatr Im S S Korsakova. 2017; 117(6): 106 - 110. Russian. doi: 10.17116/jnevro201711761106-110. PMID: 28745680.
- Гражданский кодекс (ГК РФ)
- Жилищный кодекс (ЖК РФ)
- Налоговый кодекс (НК РФ)
- Трудовой кодекс (ТК РФ)
- Уголовный кодекс (УК РФ)
- Бюджетный кодекс (БК РФ)
- Арбитражный процессуальный кодекс
- Конституция РФ
- Земельный кодекс (ЗК РФ)
- Лесной кодекс (ЛК РФ)
- Семейный кодекс (СК РФ)
- Уголовно-исполнительный кодекс
- Уголовно-процессуальный кодекс
- Производственный календарь на 2025 год
- МРОТ 2024
- ФЗ «О банкротстве»
- О защите прав потребителей (ЗОЗПП)
- Об исполнительном производстве
- О персональных данных
- О налогах на имущество физических лиц
- О средствах массовой информации
- Производственный календарь на 2024 год
- Федеральный закон "О полиции" N 3-ФЗ
- Расходы организации ПБУ 10/99
- Минимальный размер оплаты труда (МРОТ)
- Календарь бухгалтера на 2024 год
- Частичная мобилизация: обзор новостей