http://orcid.org/0000-0001-7696-4525
References
- Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. Hum Pathol. 2016;49:27–32. doi: 10.1016/j.humpath.2015.09.039.
- Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017;241:236–50. doi: 10.1002/path.4809.
- Hazard FK, Ficicioglu CH, Ganesh J, Ruchelli ED. Liver pathology in infantile mitochondrial DNA depletion syndrome. Pediatr Dev Pathol. 2013;16:415–24. doi: 10.2350/12-07-1229-OA.1.
- Ernst LM, Sondheimer N, Deardorff MA, Bennett MJ, Pawel BR. The value of the metabolic autopsy in the pediatric hospital setting. J Pediatr. 2006;148:779–83. doi: 10.1016/j.jpeds.2006.01.040.
- Sokol RJ, Treem WR. Mitochondria and childhood liver diseases. J Pediatr Gastroenterol Nutr. 1999;28:4–16.
- Mandel H, Hartman C, Berkowitz D, Elpeleg ON, Manov I, Iancu TC. The hepatic mitochondrial DNA depletion syndrome: Ultrastructural changes in liver biopsies. Hepatology. 2001;34:776–84. doi: 10.1053/jhep.2001.27664.
- Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, et al. The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy. Sci Rep. 2016;6:30610. doi: 10.1038/srep30610.
- Scheuerle A, Pavenstaedt I, Schlenk R, Melzner I, Rödel G, Haferkamp O. In situ autolysis of mouse brain: ultrastructure of mitochondria and the function of oxidative phosphorylation and mitochondrial DNA. Virchows Arch B: Cell Pathol. 1993;63:331–4.
- Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 602985:6/16/2019. World Wide Web URL: https://www.omim.org/entry/602985