| 000 | 01458 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250516013901.0 | ||
| 264 | 0 | _c20110404 | |
| 008 | 201104s 0 0 eng d | ||
| 022 | _a1536-4801 | ||
| 024 | 7 |
_a10.1097/MPG.0b013e3181f50388 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBalasubramaniam, S | |
| 245 | 0 | 0 |
_aNovel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. _h[electronic resource] |
| 260 |
_bJournal of pediatric gastroenterology and nutrition _cJan 2011 |
||
| 300 |
_a113-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aGenes |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aLiver Failure, Acute _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xcomplications |
| 650 | 0 | 4 |
_aMonosaccharides _xurine |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aPentose Phosphate Pathway _xgenetics |
| 650 | 0 | 4 |
_aPolymers _xmetabolism |
| 650 | 0 | 4 |
_aTransaldolase _xdeficiency |
| 700 | 1 | _aWamelink, Mirjam M C | |
| 700 | 1 | _aNgu, Lock-Hock | |
| 700 | 1 | _aTalib, Arni | |
| 700 | 1 | _aSalomons, Gajja S | |
| 700 | 1 | _aJakobs, Cornelis | |
| 700 | 1 | _aKeng, Wee-Teik | |
| 773 | 0 |
_tJournal of pediatric gastroenterology and nutrition _gvol. 52 _gno. 1 _gp. 113-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MPG.0b013e3181f50388 _zAvailable from publisher's website |
| 999 |
_c20411720 _d20411720 |
||