| 000 | 01382 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250515025659.0 | ||
| 264 | 0 | _c20060825 | |
| 008 | 200608s 0 0 eng d | ||
| 022 | _a1567-7249 | ||
| 024 | 7 |
_a10.1016/j.mito.2006.03.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWillemsen, Marjolein | |
| 245 | 0 | 0 |
_aFemales with PDHA1 gene mutations: a diagnostic challenge. _h[electronic resource] |
| 260 |
_bMitochondrion _cJun 2006 |
||
| 300 |
_a155-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosomes, Human, X |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aMuscles _xmetabolism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase (Lipoamide) _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex Deficiency Disease _xdiagnosis |
| 650 | 0 | 4 | _aX Chromosome Inactivation |
| 700 | 1 | _aRodenburg, Richard J T | |
| 700 | 1 | _aTeszas, Alexandra | |
| 700 | 1 | _avan den Heuvel, Lambert | |
| 700 | 1 | _aKosztolanyi, Gyorgy | |
| 700 | 1 | _aMorava, Eva | |
| 773 | 0 |
_tMitochondrion _gvol. 6 _gno. 3 _gp. 155-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.mito.2006.03.001 _zAvailable from publisher's website |
| 999 |
_c16312790 _d16312790 |
||