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Другие виды нарушения обмена аминокислот с разветвленной цепью (Метилмалоновая ацидемия /ацидурия)

Список литературы

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  23. UCD GUIDELINE – 1st REVISION 2018 – AWMF https://www.awmf.org/uploads/tx_szleitlinien/027-006l_S3_Diagnostik-Therapie-Harnstoffzyklusstoerungen_2018-06.pdf
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  30. Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2
  31. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald First published: J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. Erratum in: J Inherit Metab Dis. 2022 Jul;45(4):862. PMID: 33595124; PMCID: PMC8252715.
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  33. «Nutrition Management of inherited Metabolic Diseases» Laurie E.Bern, Fran Rohr, Joanna R.Helm 2015 DOI 10.1007/978-3-319-14621-8
  34. V Reid Sutton, MDSihoun Hahn, MD, PhD Elizabeth TePas, MD, MS Metabolic emergencies in suspected inborn errors of metabolism: Presentation, evaluation, and management last updated: Jun 26, 2020.https://www.uptodate.com/contents/metabolic-emergencies-in-suspected-inborn-errors-of-metabolism-presentation-evaluation-and-managemen
  35. Peter Yorgin, MD, Robert Mak, MD, PhD Approach to the child with metabolic acidosis https://www.uptodate.com/contents/approach-to-the-child-with-metabolic-acidosis?search=patient%20education%20organic%20acidemias&source=search_result&selectedTitle=8~39&usage_type=default&display_rank=8
  36. Chen CY, Tsai TC, Lee WJ, Chen HC. Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia. Ren Fail. 2007;29(6):751-4. doi: 10.1080/08860220701460426
  37. Jurecki E, Ueda K, Frazier D, et al. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Mol Genet Metab. 2019;126(4):341-354. doi: 10.1016/j.ymgme.2019.02.007
  38. Pinto A, Evans S, Daly A, et al. Dietary practices in methylmalonic acidaemia: a European survey. J Pediatr Endocrinol Metab. 2020;33(1):147-155. doi:10.1515/jpem-2019-0277
  39. Kiykim E, Oguz O, Duman C, Zubarioglu T, Cansever MS, Zeybek ACA. Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias. Mol Genet Metab Rep. 2021; 26:100715. Published 2021 Jan 30. doi: 10.1016/j.ymgmr.2021.100715
  40. Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004
  41. Wu X, Wan D, Xie C, et al. Acute and sub-acute oral toxicological evaluations and mutagenicity of N-carbamylglutamate (NCG). Regul Toxicol Pharmacol. 2015;73(1):296-302. doi: 10.1016/j.yrtph.2015.07.009
  42. Nashabat M, Obaid A, Al Mutairi F, et al. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. BMC Pediatr. 2019;19(1):195. Published 2019 Jun 13. doi:10.1186/s12887-019-1571-y
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  44. Burlina A, Cazzorla C, Zanonato E, Viggiano E, Fasan I, Polo G. Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. Mol Genet Metab Rep. 2016; 8:34-40. Published 2016 Jul 13. doi: 10.1016/j.ymgmr.2016.06.007
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  47. Sutton VR, Chapman KA, Gropman AL, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034
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  50. Alfadhel M, Nashabat M, Saleh M, et al. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. Orphanet J Rare Dis. 2021;16(1):422. Published 2021 Oct 11. doi:10.1186/s13023-021-02032-8
  51. Benato A, Carecchio M, Burlina A, et al. Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. J Neural Transm (Vienna). 2019;126(6):739-757. doi:10.1007/s00702-019-02010-2
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  53. Qiliang L, Wenqi S, Quan W, et al. Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. Indian Pediatr. 2015;52(2):119-124. doi:10.1007/s13312-015-0584-3
  54. Ramos BCF, Aranda CS, Cardona RSB, Martins AM, Solé D, Clemens SAC, Clemens R. Vaccination strategies for people living with inborn errors of metabolism in Brazil. J Pediatr (Rio J). 2023 Mar-Apr;99 Suppl 1(Suppl 1):S70-S80

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