TY  - GEN
AU  - Marie,Sandrine
AU  - Heron,Benedicte
AU  - Bitoun,Pierre
AU  - Timmerman,Therese
AU  - Van Den Berghe,Georges
AU  - Vincent,Marie-Francoise
TI  - AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC
SN  - 0002-9297
PY  - 2004///0706
KW  - Aminoimidazole Carboxamide
KW  - analogs & derivatives
KW  - Blindness
KW  - congenital
KW  - Child, Preschool
KW  - Erythrocytes
KW  - metabolism
KW  - Female
KW  - Fibroblasts
KW  - drug effects
KW  - Humans
KW  - Hydroxymethyl and Formyl Transferases
KW  - deficiency
KW  - Metabolism, Inborn Errors
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nucleotide Deaminases
KW  - Phosphoribosylaminoimidazolecarboxamide Formyltransferase
KW  - Purines
KW  - biosynthesis
KW  - Recombinant Proteins
KW  - Ribonucleotides
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/421475
ER  -