| 000 | 01234 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250513235330.0 | ||
| 264 | 0 | _c20010705 | |
| 008 | 200107s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5200620 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMühl, A | |
| 245 | 0 | 0 |
_aMolecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cApr 2001 |
||
| 300 |
_a237-43 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmidohydrolases _xdeficiency |
| 650 | 0 | 4 | _aAutomation |
| 650 | 0 | 4 | _aBiotinidase |
| 650 | 0 | 4 |
_aElectrophoresis, Polyacrylamide Gel _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aMöslinger, D | |
| 700 | 1 | _aItem, C B | |
| 700 | 1 | _aStöckler-Ipsiroglu, S | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 9 _gno. 4 _gp. 237-43 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5200620 _zAvailable from publisher's website |
| 999 |
_c11248189 _d11248189 |
||