Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle.

To assess the role of the purine nucleotide cycle in human skeletal muscle function, we evaluated 10 patients with AMP deaminase deficiency (myoadenylate deaminase deficiency; MDD). 4 MDD and 19 non-MDD controls participated in an exercise protocol. The latter group was composed of a patient cohort...

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Hlavní autoři: Sabina, R L, Swain, J L, Olanow, C W, Bradley, W G, Fishbein, W N, DiMauro, S, Holmes, E W
Médium: Artigo
Jazyk:Inglês
Vydáno: 1984
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC425074/
https://ncbi.nlm.nih.gov/pubmed/6707201
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