title: [Heterogenous phenotypes associated with molecular abnormalities in inherited metabolic disorders].
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D005786:Gene Expression Regulation; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase