| 000 | 01569 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516214351.0 | ||
| 264 | 0 | _c20150827 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a1873-3492 | ||
| 024 | 7 |
_a10.1016/j.cca.2014.05.011 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPark, Julien H | |
| 245 | 0 | 0 |
_aThe novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation. _h[electronic resource] |
| 260 |
_bClinica chimica acta; international journal of clinical chemistry _cSep 2014 |
||
| 300 |
_a135-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aArtifacts |
| 650 | 0 | 4 |
_aBlood Chemical Analysis _xmethods |
| 650 | 0 | 4 | _aChromatography, High Pressure Liquid |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xblood |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoprecipitation |
| 650 | 0 | 4 | _aIsoelectric Focusing |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aReproducibility of Results |
| 650 | 0 | 4 |
_aTransferrin _xgenetics |
| 700 | 1 | _aZühlsdorf, Andrea | |
| 700 | 1 | _aWada, Yoshinao | |
| 700 | 1 | _aRoll, Claudia | |
| 700 | 1 | _aRust, Stephan | |
| 700 | 1 | _aDu Chesne, Ingrid | |
| 700 | 1 | _aGrüneberg, Marianne | |
| 700 | 1 | _aReunert, Janine | |
| 700 | 1 | _aMarquardt, Thorsten | |
| 773 | 0 |
_tClinica chimica acta; international journal of clinical chemistry _gvol. 436 _gp. 135-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.cca.2014.05.011 _zAvailable from publisher's website |
| 999 |
_c23868611 _d23868611 |
||