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. 2021 Jun;193(6):1283-1287.
doi: 10.1111/bjh.17434. Epub 2021 Apr 10.

Haematological characteristics and spontaneous haematological recovery in Pearson syndrome

Ayami Yoshimi  1 , Sarah C Grünert  2 , Holger Cario  3 , Aron Fisch  1 , Ute Gross-Wieltsch  4 , Kirsten Timmermann  5 , Udo Kontny  6 , Stephan Lobitz  7 , Helen S Odenthal  8 , Irene Schmid  9 , Barbara Uetz  10 , Tanja Höll  11 , Agnès Rötig  12 , Thomas Lücke  13 , Arndt Borkhardt  14 , Gabriele Strauß  15   16 , Alexander Hohnecker  17 , Markus Metzler  18 , Daniela Karall  19 , Charlotte M Niemeyer  1
Affiliations

Haematological characteristics and spontaneous haematological recovery in Pearson syndrome

Ayami Yoshimi et al. Br J Haematol. 2021 Jun.
No abstract available

Keywords: Pearson syndrome; hematological recovery; mitochondrial disease; single large-scale mitochondrial DNA deletion.

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References

    1. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979;95:976-84.
    1. Rotig A, Colonna M, Blanche S, Fischer A, Le Deist F, Frezal J, et al. Deletion of blood mitochondrial DNA in pancytopenia. Lancet. 1988;2:567-8.
    1. Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, Macaluso A, Valvo LL, et al. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD reports. 2016;26:37-43.
    1. Rotig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 1995;4:1327-30.
    1. Knerr I, Metzler M, Niemeyer CM, Holter W, Gerecke A, Baumann I, et al. Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. J. Pediatr. Hematol. Oncol. 2003;25:948-51.

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