No abstract available
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Child
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Fibroblasts / enzymology
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Humans
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Kinetics
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Middle Aged
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Mutation*
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Phosphotransferases / metabolism*
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Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
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Ribose-Phosphate Pyrophosphokinase / genetics
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Ribose-Phosphate Pyrophosphokinase / metabolism*
Substances
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Phosphotransferases
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Ribose-Phosphate Pyrophosphokinase