| 000 | 01785 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516035121.0 | ||
| 264 | 0 | _c20120525 | |
| 008 | 201205s 0 0 eng d | ||
| 022 | _a1573-2665 | ||
| 024 | 7 |
_a10.1007/s10545-011-9345-1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan de Kamp, Jiddeke M | |
| 245 | 0 | 0 |
_aLong-term follow-up and treatment in nine boys with X-linked creatine transporter defect. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _cJan 2012 |
||
| 300 |
_a141-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmino Acid Transport Disorders, Inborn _xgenetics |
| 650 | 0 | 4 |
_aArginine _xmetabolism |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 |
_aCreatine _xtherapeutic use |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 |
_aGlycine _xtherapeutic use |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aIntelligence Tests |
| 650 | 0 | 4 |
_aMagnetic Resonance Spectroscopy _xmethods |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 |
_aNeurons _xmetabolism |
| 700 | 1 | _aPouwels, Petra J W | |
| 700 | 1 | _aAarsen, Femke K | |
| 700 | 1 | _aten Hoopen, Leontine W | |
| 700 | 1 | _aKnol, Dirk L | |
| 700 | 1 | _ade Klerk, Johannes B | |
| 700 | 1 | _ade Coo, Ireneus F | |
| 700 | 1 | _aHuijmans, Jan G M | |
| 700 | 1 | _aJakobs, Cornelis | |
| 700 | 1 | _avan der Knaap, Marjo S | |
| 700 | 1 | _aSalomons, Gajja S | |
| 700 | 1 | _aMancini, Grazia M S | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 35 _gno. 1 _gp. 141-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10545-011-9345-1 _zAvailable from publisher's website |
| 999 |
_c20820130 _d20820130 |
||