| 000 | 01567 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517133051.0 | ||
| 264 | 0 | _c20171218 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1873-5150 | ||
| 024 | 7 |
_a10.1016/j.pediatrneurol.2016.10.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHeussinger, Nicole | |
| 245 | 0 | 0 |
_aVariable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. _h[electronic resource] |
| 260 |
_bPediatric neurology _c02 2017 |
||
| 300 |
_a45-52 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAtrophy _xblood |
| 650 | 0 | 4 |
_aBrain Diseases, Metabolic, Inborn _xblood |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCreatine _xblood |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xblood |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xblood |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPlasma Membrane Neurotransmitter Transport Proteins _xblood |
| 650 | 0 | 4 |
_aWhite Matter _xdiagnostic imaging |
| 700 | 1 | _aSaake, Marc | |
| 700 | 1 | _aMennecke, Angelika | |
| 700 | 1 | _aDörr, Helmuth-Günther | |
| 700 | 1 | _aTrollmann, Regina | |
| 773 | 0 |
_tPediatric neurology _gvol. 67 _gp. 45-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.pediatrneurol.2016.10.007 _zAvailable from publisher's website |
| 999 |
_c26763940 _d26763940 |
||