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A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

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References

  1. Anderson BH, Bankier AT, Barrell BG et al (1981) Sequence and organization of the human mitochondrial genome.Nature 290: 457–465.

  2. De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.Pediatr Neurol 13: 242–246.

  3. Gérard B, Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1993) Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.Eur J Pediatr 152: 270.

  4. Kunkel L, Smith K, Boyer S et al (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosome variants.Proc Natl Acad Sci USA 74: 1245–1249.

  5. Robinson BH (1995) Lactic acidemia. In: Scriver CR, Beaudet AC, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1479–1499.

  6. Schoffner JM, Wallace DC (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AC, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1535–1609.

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Correspondence to S. Seneca.

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Seneca, S., Abramowicz, M., Lissens, W. et al. A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis. J Inherit Metab Dis 19, 115–118 (1996). https://doi.org/10.1007/BF01799407

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Keywords

  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Lactic Acidosis
  • Newborn Girl