关键词: AICA-riboside AICA-ribosiduria AICAR ATIC clinical genetics de novo purine biosynthesis metabolic disease rare disease
Mesh : Aminoimidazole Carboxamide / metabolism Child Child, Preschool Congenital Abnormalities / genetics Epilepsy / genetics Female Humans Hydroxymethyl and Formyl Transferases / deficiency genetics metabolism Infant Infant, Newborn Intellectual Disability / genetics Male Multienzyme Complexes / genetics metabolism Mutation Nucleotide Deaminases / deficiency genetics metabolism Phenotype Ribonucleosides / metabolism
来 源:
DOI:10.1002/jimd.12274
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