| 000 | 01273 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250515163232.0 | ||
| 264 | 0 | _c20090527 | |
| 008 | 200905s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2009.01.016 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTylki-Szymańska, Anna | |
| 245 | 0 | 0 |
_aTransaldolase deficiency in two new patients with a relative mild phenotype. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cMay 2009 |
||
| 300 |
_a15-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aCarbohydrates _xurine |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolymers _xanalysis |
| 650 | 0 | 4 |
_aTransaldolase _xdeficiency |
| 700 | 1 | _aStradomska, Teresa J | |
| 700 | 1 | _aWamelink, Mirjam M C | |
| 700 | 1 | _aSalomons, Gajja S | |
| 700 | 1 | _aTaybert, Joanna | |
| 700 | 1 | _aPawłowska, Joanna | |
| 700 | 1 | _aJakobs, Cornelis | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 97 _gno. 1 _gp. 15-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2009.01.016 _zAvailable from publisher's website |
| 999 |
_c18737434 _d18737434 |
||