AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. [electronic resource]
Producer: 20040706Description: 1276-81 p. digitalISSN:- 0002-9297
- Aminoimidazole Carboxamide -- analogs & derivatives
- Blindness -- congenital
- Child, Preschool
- Erythrocytes -- metabolism
- Female
- Fibroblasts -- drug effects
- Humans
- Hydroxymethyl and Formyl Transferases -- deficiency
- Metabolism, Inborn Errors -- genetics
- Molecular Sequence Data
- Mutation -- genetics
- Nucleotide Deaminases -- genetics
- Phosphoribosylaminoimidazolecarboxamide Formyltransferase
- Purines -- biosynthesis
- Recombinant Proteins -- genetics
- Ribonucleotides -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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