No abstract available
MeSH terms
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AMP Deaminase / deficiency*
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AMP Deaminase / genetics
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Humans
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Muscle, Skeletal / enzymology
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Mutation
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Purine Nucleotides / metabolism
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Purine-Pyrimidine Metabolism, Inborn Errors* / diagnosis
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Purine-Pyrimidine Metabolism, Inborn Errors* / etiology
Substances
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Purine Nucleotides
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AMP Deaminase