REFERENCES

1. Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126:1905-12.

2. Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009;32:143-58.

3. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.

4. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D’Adamo P, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.

5. Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, et al. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 2008;65:1108-13.

6. Munnich A, Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 2001;106:4-17.

7. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005;128:723-31.

8. Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-40.

9. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.

10. Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006;79:544-8.

11. Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, et al. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 2009;50:215-21.

12. Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 2007;46:1218-27.

13. Navarro-Sastre A, Martin-Hernandez E, Campos Y, Quintana E, Medina E, et al. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. Mol Genet Metab 2008;94:234-9.

14. Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, et al. Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. Mol Genet Metab 2009;97:292-6.

15. El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, et al. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab 2010;99:300-8.

16. Merkle AN, Nascene DR, McKinney AM. MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome. AJNR Am J Neuroradiol 2012;33:E34-5.

17. Al-Jasmi F, Penefsky HS, Souid AK. The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics. Mol Genet Metab 2011;104:529-36.

18. AlSaman A, Tomoum H, Invernizzi F, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol 2012;18:285-9.

19. Nogueira C, de Souza CF, Husny A, Derks TG, Santorelli FM, et al. MPV17: fatal hepatocerebral presentation in a Brazilian infant. Mol Genet Metab 2012;107:764.

20. Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, et al. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet 2014;22:184-91.

21. Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucinska-Wieckowska A, Szymanska-Debinska T, et al. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. Clin Genet 2014;85:573-7.

22. Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, et al. Adult-onset fatal neurohepatopathy in a woman caused by MPV17 mutation. JIMD Rep 2014;13:37-41.

23. Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, et al. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. J Pediatr 2014;164:553-9.e1-2.

24. Sarkhy AA, Al-Sunaid A, Abdullah A, AlFadhel M, Eiyad W. A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure. Ann Saudi Med 2014;34:175-8.

25. Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, et al. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 2014;61:1056-63.

26. Bijarnia-Mahay S, Mohan N, Goyal D, Verma IC. Mitochondrial DNA depletion syndrome causing liver failure. Indian Pediatr 2014;51:666-8.

27. McKiernan P, Ball S, Santra S, Foster K, Fratter C, et al. Incidence of primary mitochondrial disease in children younger than 2 years presenting with acute liver failure. J Pediatr Gastroenterol Nutr 2016;63:592-7.

28. Kim J, Kang E, Kim Y, Kim JM, Lee BH, et al. MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab Rep 2016;8:74-6.

29. Bitting CP, Hanson JA. Navajo neurohepatopathy: a case report and literature review emphasizing clinicopathologic diagnosis. Acta Gastroenterol Belg 2016;79:463-9.

30. El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, et al. MPV17-related mitochondrial DNA maintenance defect: new cases and review of clinical, biochemical, and molecular aspects. Hum Mutat 2018;39:461-70.

31. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, et al. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 1999;52:1255-64.

32. He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002;30:e68.

33. Baumann U, Adam R, Duvoux C, Mikolajczyk R, Karam V, et al. Survival of children after liver transplantation for hepatocellular carcinoma. Liver Transpl 2018;24:246-55.

Hepatoma Research
ISSN 2454-2520 (Online) 2394-5079 (Print)

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