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22. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. Akesson LS; Eggers S; Love CJ; Chong B; Krzesinski EI; Brown NJ; Tan TY; Richmond CM; Thorburn DR; Christodoulou J; Hunter MF; Lunke S; Stark Z Eur J Hum Genet; 2019 Dec; 27(12):1821-1826. PubMed ID: 31358953 [TBL] [Abstract][Full Text] [Related]
23. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. Sadikovic B; Wang J; El-Hattab AW; Landsverk M; Douglas G; Brundage EK; Craigen WJ; Schmitt ES; Wong LJ PLoS One; 2010 Dec; 5(12):e15687. PubMed ID: 21187929 [TBL] [Abstract][Full Text] [Related]
24. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Kleinle S; Wiesmann U; Superti-Furga A; Krähenbühl S; Boltshauser E; Reichen J; Liechti-Gallati S Hum Genet; 1997 Oct; 100(5-6):643-50. PubMed ID: 9341886 [TBL] [Abstract][Full Text] [Related]
25. Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Fischel-Ghodsian N; Bohlman MC; Prezant TR; Graham JM; Cederbaum SD; Edwards MJ Pediatr Res; 1992 Jun; 31(6):557-60. PubMed ID: 1635816 [TBL] [Abstract][Full Text] [Related]
26. Pearson syndrome. Farruggia P; Di Marco F; Dufour C Expert Rev Hematol; 2018 Mar; 11(3):239-246. PubMed ID: 29337599 [TBL] [Abstract][Full Text] [Related]
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29. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Miller MJ; Burrage LC; Gibson JB; Strenk ME; Lose EJ; Bick DP; Elsea SH; Sutton VR; Sun Q; Graham BH; Craigen WJ; Zhang VW; Wong LJ Mol Genet Metab; 2015 Nov; 116(3):139-45. PubMed ID: 26385305 [TBL] [Abstract][Full Text] [Related]
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34. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome]. Wang ZX; Yuan Y; Gao F; Qi Y; Shen DG; Chen QT Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug; 20(4):273-8. PubMed ID: 12903032 [TBL] [Abstract][Full Text] [Related]
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