Abbreviations
- AA:
-
acetoacetate
- C:
-
controls
- 3HB:
-
3-hydroxybutyrate
- L:
-
lactate
- P:
-
pyruvate
References
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Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R (1979) A new syndrome of refractory sideroblastic anemia with yacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976–984
Rötig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A (1989) Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome. Lancet I:902–903
Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A (1990) Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 86:1601–1608
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Jakobs, C., Danse, P. & Veerman, A.J.P. Organic aciduria in Pearson syndrome. Eur J Pediatr 150, 684 (1991). https://doi.org/10.1007/BF02072635
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DOI: https://doi.org/10.1007/BF02072635