| 000 | 01438 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516084752.0 | ||
| 264 | 0 | _c20121106 | |
| 008 | 201211s 0 0 eng d | ||
| 022 | _a1439-1899 | ||
| 024 | 7 |
_a10.1055/s-0032-1309308 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMayr, Johannes A | |
| 245 | 0 | 0 |
_aA 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency. _h[electronic resource] |
| 260 |
_bNeuropediatrics _cJun 2012 |
||
| 300 |
_a130-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase (Lipoamide) _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex Deficiency Disease _xgenetics |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 700 | 1 | _aKoch, Johannes | |
| 700 | 1 | _aFauth, Christine | |
| 700 | 1 | _aZimmermann, Franz A | |
| 700 | 1 | _aRauscher, Christian | |
| 700 | 1 | _aZschocke, Johannes | |
| 700 | 1 | _aSperl, Wolfgang | |
| 773 | 0 |
_tNeuropediatrics _gvol. 43 _gno. 3 _gp. 130-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1055/s-0032-1309308 _zAvailable from publisher's website |
| 999 |
_c21675617 _d21675617 |
||