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11. Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, et al. Altered thymidine metabolism due to defects of thymidine phosphorylase. J
Biol Chem 2002;277:4128-33.
12. Martí R, Nishigaki Y, Hirano M. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys
Res Commun 2003;303:14-8.
13. Martí R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, et al. Definitive diagnosis of mitochondrial neurogastrointestinal
encephalomyopathy by biochemical assays. Clin Chem 2004;50:120-4.
14. Valentino ML, Martí R, Tadesse S, López LC, Manes JL, et al. Thymidine and deoxyuridine accumulate in tissues of patients with
mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett. 2007;581:3410-4.
15. Filosto M, Scarpelli M, Tonin P, Testi S, Cotelli MS, et al. Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
J Inherit Metab Dis 2011;34:1199-203.
16. Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain
2011;134:3326-32.
17. Prevalence and incidence of rare diseases: bibliographic data. Available from: www.orpha.net. [Last accessed on 3 Mar 2020]
18. Santoshkumar B, Shenoy KT, Radhakrishnan K, Radhakrishnan VV. Mitochondrial neurogastrointestinal encephalopathy (MNGIE) in a
South Indian family with two affected siblings. Neurol India 1997;45:87-90.
19. Nishino I, Spinazzola A, Hirano M. MNGIE: from nuclear DNA to mitochondrial DNA. Neuromuscul Disord 2001;11:7-10.
20. Kintarak J, Liewluck T, Sangruchi T, Hirano M, Kulkantrakorn K, et al. A novel ECGF1 mutation in a Thai patient with mitochondrial
neurogastrointestinal encephalomyopathy (MNGIE). Clin Neurol Neurosurg 2007;109:613-6.
21. Carod-Artal FJ, Herrero MD, Lara MC, López-Gallardo E, Ruiz-Pesini E, et al. Cognitive dysfunction and hypogonadotrophic
hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J
Neurol 2007;14:581-5.
22. Borhani Haghighi A, Nabavizadeh A, Sass JO, Safari A, Lankarani KB. Mitochondrial neurogastrointestinal encephalomyopathy. Arch
Iran Med 2009;12:588-90.
23. Bariş Z, Eminoğlu T, Dalgiç B, Tümer L, Hasanoğlu A. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report
with a new mutation. Eur J Pediatr 2010;169:1375-8.
24. Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, et al. A novel thymidine phosphorylase mutation in a Chinese MNGIE patient. Acta Neurol
Belg 2017;117:259-67.
25. Falcão de Campos C, Oliveira Santos M, Roque R, Conceição I, de Carvalho M. Mitochondrial neurogastrointestinal encephalomyopathy:
novel pathogenic mutation in thymidine phosphorylase gene in a patient from cape verde islands. Case Rep Neurol Med
2019;2019:5976410.
26. Lara MC, Valentino ML, Torres-Torronteras J, Hirano M, Martí R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE):
biochemical features and therapeutic approaches. Biosci Rep 2007:27:151-63.
27. Taanman JW, Daras M, Albrecht J, Davie CA, Mallam EA, et al. Characterization of a novel TYMP splice site mutation associated with
mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neuromuscul Disord 2009;19:151-4.
28. Martí R, Verschuuren JJGM, Buchman A, Hirano I, Tadesse S, et al. Late-onset MNGIE due to partial loss of thymidine phosphorylase
activity. Ann Neurol 2005;58:649-52.
29. Massa R, Tessa A, Margollicci M, Hirano I, Tadesse S, et al. Late-onset MNGIE without peripheral neuropathy due to incomplete loss of
thymidine phosphorylase activity. Neuromuscul Disord 2009;19:837-40.
30. Demaria F, De Crescenzo F, Caramadre AM, D’Amico A, Diamanti A, et al. Mitochondrial neurogastrointestinal encephalomyopathy
presenting as anorexia nervosa. J Adolesc Heal 2016;59:729-31.
31. Imperatore N, Tortora R, Gerbino N, Caporaso N, Rispo A. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking
refractory celiac disease. Dig Liver Dis 2017;49:1061-2.
32. Nagata JM, Buckelew SM. Mitochondrial neurogastrointestinal encephalomyopathy in the differential diagnosis of eating disorders. J
Adolesc Heal 2017;61:661.
33. Kučerová L, Dolina J, Dastych M, Bartušek D, Honzík T, et al. Mitochondrial neurogastrointestinal encephalomyopathy imitating
Crohn’s disease: a rare cause of malnutrition. J Gastrointest Liver Dis 2018;27:321-5.
34. Bedlack RS, Vu T, Hammans S, Sparr SA, Myers B, et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating
polyneuropathy. Muscle Nerve 2004;29:364-8.
35. Said G, Lacroix C, Planté-Bordeneuve V, Messing B, Slama A, et al. Clinicopathological aspects of the neuropathy of
neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. J Neurol
2005;252:655-62.
36. Needham M, Duley J, Hammond S, Herkes GK, Hirano M, et al. Mitochondrial disease mimicking Charcot-Marie tooth disease. J Neurol
Neurosurg Psychiatry 2007;78:99-100.
37. Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, et al. Mitochondrial neurogastrointestinal encephalopathy due to
mutations in RRM2B. Arch Neurol 2009;66:1028-32.
38. Prasun P, Koeberl DD. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel
heterozygous POLG mutation. J Neurol 2014;261:1818-9.
39. Simon LT, Horoupian DS, Dorfman LJ, Marks M, Herrick MK, et al. Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and
intestinal pseudo-obstruction: POLIP syndrome. Ann Neurol 1990;28:349-60.
40. Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, et al. Partial depletion and multiple deletions of muscle mtDNA