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- Title
Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
- Authors
Morel, Anne-Sophie; Joris, Nadia; Meuli, Reto; Jacquemont, Sébastien; Ballhausen, Diana; Bonafé, Luisa; Fattet, Sarah; Tolsa, Jean-François
- Abstract
Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course.
- Publication
European journal of pediatrics, 2009, Vol 168, Issue 3, p311
- ISSN
1432-1076
- Publication type
Journal Article
- DOI
10.1007/s00431-008-0756-4