Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
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Publisher
London: BioMed Central Ltd
Journal title
Language
English
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Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs....
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Full title
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
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TN_cdi_doaj_primary_oai_doaj_org_article_20ed58046818443f9f1a88cb31d8506b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_20ed58046818443f9f1a88cb31d8506b
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02538-9
