AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.

Marie, Sandrine

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. [electronic resource] - American journal of human genetics Jun 2004 - 1276-81 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/421475 doi


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