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...
Αποθηκεύτηκε σε:
| Εκδόθηκε σε: | J Clin Invest |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Clinical Investigation
1990
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| Θέματα: | |
| Διαθέσιμο Online: | 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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