000 | 01208 a2200361 4500 | ||
---|---|---|---|
005 | 20250516035024.0 | ||
264 | 0 | _c20120328 | |
008 | 201203s 0 0 eng d | ||
022 | _a1873-5150 | ||
024 | 7 |
_a10.1016/j.pediatrneurol.2011.01.012 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBrackmann, Florian A | |
245 | 0 | 0 |
_aRapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. _h[electronic resource] |
260 |
_bPediatric neurology _cJun 2011 |
||
300 |
_a475-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
650 | 0 | 4 | _aDisease Progression |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLafora Disease _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aTime Factors |
650 | 0 | 4 | _aUbiquitin-Protein Ligases |
700 | 1 | _aKiefer, Alexander | |
700 | 1 | _aAgaimy, Abbas | |
700 | 1 | _aGencik, Martin | |
700 | 1 | _aTrollmann, Regina | |
773 | 0 |
_tPediatric neurology _gvol. 44 _gno. 6 _gp. 475-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.pediatrneurol.2011.01.012 _zAvailable from publisher's website |
999 |
_c20818434 _d20818434 |