Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00467-023-06114-6.pdf
Reference5 articles.
1. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R, Marsh JC (1979) A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976–984. https://doi.org/10.1016/s0022-3476(79)80286-3
2. Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC (2022) Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure. Orphanet J Rare Dis 17:379. https://doi.org/10.1186/s13023-022-02538-9
3. Emma F, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27:539–550. https://doi.org/10.1007/s00467-011-1926-6
4. Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327–1330. https://doi.org/10.1093/hmg/4.8.1327
5. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM (2016) Mitochondrial diseases. Nat Rev Dis Primers 2:16080. https://doi.org/10.1038/nrdp.2016.80
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