| 000 | 01441 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517092007.0 | ||
| 264 | 0 | _c20171215 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1873-5150 | ||
| 024 | 7 |
_a10.1016/j.pediatrneurol.2016.02.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMaas, Roderick P P W M | |
| 245 | 0 | 0 |
_aThe Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. _h[electronic resource] |
| 260 |
_bPediatric neurology _c06 2016 |
||
| 300 |
_a71-75.e1 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCerebellar Ataxia _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFoot Deformities, Congenital _xgenetics |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOptic Atrophy _xgenetics |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aReflex, Abnormal _xgenetics |
| 650 | 0 | 4 |
_aSodium-Potassium-Exchanging ATPase _xgenetics |
| 700 | 1 | _aSchieving, Jolanda H | |
| 700 | 1 | _aSchouten, Meyke | |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _avan de Warrenburg, Bart P C | |
| 773 | 0 |
_tPediatric neurology _gvol. 59 _gp. 71-75.e1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.pediatrneurol.2016.02.010 _zAvailable from publisher's website |
| 999 |
_c25937483 _d25937483 |
||