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Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

A patient is described who has features of Pearson syndrome and who presented in the neonatal period with a hypoplastic anemia. He later developed hepatic, renal, and exocrine pancreatic dysfunction. At the age of 5 years he developed visual impairment, tremor, ataxia, proximal muscle weakness, exte...

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Hlavní autoři: McShane, M A, Hammans, S R, Sweeney, M, Holt, I J, Beattie, T J, Brett, E M, Harding, A E
Médium: Artigo
Jazyk:Inglês
Vydáno: 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682744/
https://ncbi.nlm.nih.gov/pubmed/1985462
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