000 | 01275 a2200349 4500 | ||
---|---|---|---|
005 | 20250515123429.0 | ||
264 | 0 | _c20081118 | |
008 | 200811s 0 0 eng d | ||
022 | _a1531-8257 | ||
024 | 7 |
_a10.1002/mds.22145 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aFarooq, Muhammad U | |
245 | 0 | 0 |
_aA novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings. _h[electronic resource] |
260 |
_bMovement disorders : official journal of the Movement Disorder Society _cJul 2008 |
||
300 |
_a1487-8 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter | ||
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aChorea _xenzymology |
650 | 0 | 4 | _aCodon, Nonsense |
650 | 0 | 4 |
_aGlycoproteins _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMucopolysaccharidosis II _xenzymology |
650 | 0 | 4 | _aPhenotype |
700 | 1 | _aBalmer, Susan V | |
700 | 1 | _aDeRoos, Steven T | |
700 | 1 | _aHoutman, Karen L | |
700 | 1 | _aChillag, Kipp L | |
773 | 0 |
_tMovement disorders : official journal of the Movement Disorder Society _gvol. 23 _gno. 10 _gp. 1487-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/mds.22145 _zAvailable from publisher's website |
999 |
_c18031851 _d18031851 |