| 000 | 01696 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514185332.0 | ||
| 264 | 0 | _c20040706 | |
| 008 | 200407s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/421475 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMarie, Sandrine | |
| 245 | 0 | 0 |
_aAICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJun 2004 |
||
| 300 |
_a1276-81 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAminoimidazole Carboxamide _xanalogs & derivatives |
| 650 | 0 | 4 |
_aBlindness _xcongenital |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aErythrocytes _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xdrug effects |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydroxymethyl and Formyl Transferases _xdeficiency |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNucleotide Deaminases _xgenetics |
| 650 | 0 | 4 | _aPhosphoribosylaminoimidazolecarboxamide Formyltransferase |
| 650 | 0 | 4 |
_aPurines _xbiosynthesis |
| 650 | 0 | 4 |
_aRecombinant Proteins _xgenetics |
| 650 | 0 | 4 |
_aRibonucleotides _xmetabolism |
| 700 | 1 | _aHeron, Benedicte | |
| 700 | 1 | _aBitoun, Pierre | |
| 700 | 1 | _aTimmerman, Therese | |
| 700 | 1 | _aVan Den Berghe, Georges | |
| 700 | 1 | _aVincent, Marie-Francoise | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 74 _gno. 6 _gp. 1276-81 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/421475 _zAvailable from publisher's website |
| 999 |
_c14825247 _d14825247 |
||