| 000 | 01368 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250516211611.0 | ||
| 264 | 0 | _c20150515 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-014-9713-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan de Kamp, Jiddeke M | |
| 245 | 0 | 0 |
_aX-linked creatine transporter deficiency: clinical aspects and pathophysiology. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cSep 2014 |
||
| 300 |
_a715-33 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Review | ||
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBrain Diseases, Metabolic, Inborn _xcomplications |
| 650 | 0 | 4 |
_aCreatine _xdeficiency |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xdeficiency |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xcomplications |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 |
_aPlasma Membrane Neurotransmitter Transport Proteins _xdeficiency |
| 700 | 1 | _aMancini, Grazia M | |
| 700 | 1 | _aSalomons, Gajja S | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 37 _gno. 5 _gp. 715-33 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-014-9713-8 _zAvailable from publisher's website |
| 999 |
_c23789132 _d23789132 |
||