| 000 | 00982 a2200265 4500 | ||
|---|---|---|---|
| 005 | 20250516200643.0 | ||
| 264 | 0 | _c20150413 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2014.29 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJaeken, Jaak | |
| 245 | 0 | 0 |
_aClinical utility gene card for: Phosphomannose isomerase deficiency. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cSep 2014 |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xdiagnosis |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMannose-6-Phosphate Isomerase _xdeficiency |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aLefeber, Dirk | |
| 700 | 1 | _aMatthijs, Gert | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 22 _gno. 9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2014.29 _zAvailable from publisher's website |
| 999 |
_c23585865 _d23585865 |
||