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