No abstract available
MeSH terms
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Adenylosuccinate Lyase / deficiency*
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Adenylosuccinate Lyase / genetics
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Aminoimidazole Carboxamide / analogs & derivatives
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Aminoimidazole Carboxamide / blood
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Aminoimidazole Carboxamide / cerebrospinal fluid
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Aminoimidazole Carboxamide / urine
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Child
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Child, Preschool
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Female
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Genes, Recessive
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Humans
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Male
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Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
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Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
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Purine-Pyrimidine Metabolism, Inborn Errors / genetics
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Ribonucleotides / blood
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Ribonucleotides / cerebrospinal fluid
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Ribonucleotides / urine
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S-Adenosylmethionine / blood
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S-Adenosylmethionine / cerebrospinal fluid
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S-Adenosylmethionine / urine
Substances
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Ribonucleotides
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Aminoimidazole Carboxamide
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S-Adenosylmethionine
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Adenylosuccinate Lyase
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SAICAR