Mesh : Adenosine / analogs & derivatives blood cerebrospinal fluid urine Adenylosuccinate Lyase / deficiency genetics Aminoimidazole Carboxamide / analogs & derivatives blood cerebrospinal fluid urine Catalysis Exons Fatal Outcome Female Heterozygote Humans Infant, Newborn Mutation Phenotype Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis genetics Purines / metabolism Ribonucleotides / blood cerebrospinal fluid urine
来 源:
DOI:10.1081/NCN-200027494
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