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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and abnormal oxidative phosphorylation in lymphocytes le...

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Publicat a:J Clin Invest
Autors principals: Rötig, A, Cormier, V, Blanche, S, Bonnefont, J P, Ledeist, F, Romero, N, Schmitz, J, Rustin, P, Fischer, A, Saudubray, J M
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1990
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296909/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2243133/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114881
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