| 000 | 01523 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516072209.0 | ||
| 264 | 0 | _c20120608 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22019 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThiel, Christian | |
| 245 | 0 | 0 |
_aImproved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. _h[electronic resource] |
| 260 |
_bHuman mutation _cMar 2012 |
||
| 300 |
_a485-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xenzymology |
| 650 | 0 | 4 |
_aDolichols _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMannosyltransferases _xgenetics |
| 650 | 0 | 4 |
_aOligosaccharides _xchemistry |
| 700 | 1 | _aRind, Nina | |
| 700 | 1 | _aPopovici, Diana | |
| 700 | 1 | _aHoffmann, Georg F | |
| 700 | 1 | _aHanson, Kristen | |
| 700 | 1 | _aConway, Robert L | |
| 700 | 1 | _aAdamski, Craig R | |
| 700 | 1 | _aButler, Elizabeth | |
| 700 | 1 | _aScanlon, Rhonda | |
| 700 | 1 | _aLambert, Marie | |
| 700 | 1 | _aApeshiotis, Neophytos | |
| 700 | 1 | _aThiels, Charlotte | |
| 700 | 1 | _aMatthijs, Gert | |
| 700 | 1 | _aKörner, Christian | |
| 773 | 0 |
_tHuman mutation _gvol. 33 _gno. 3 _gp. 485-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22019 _zAvailable from publisher's website |
| 999 |
_c21431553 _d21431553 |
||