| 000 | 01012 a2200289 4500 | ||
|---|---|---|---|
| 005 | 20250517105710.0 | ||
| 008 | ####s 0 0 eng d | ||
| 022 | _a2192-8304 | ||
| 024 | 7 |
_a10.1007/8904_2016_559 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBalasubramaniam, Shanti | |
| 245 | 0 | 0 |
_aLeigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). _h[electronic resource] |
| 260 |
_bJIMD reports _c2017 |
||
| 300 |
_a99-107 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 700 | 1 | _aLewis, B | |
| 700 | 1 | _aMock, D M | |
| 700 | 1 | _aSaid, H M | |
| 700 | 1 | _aTarailo-Graovac, M | |
| 700 | 1 | _aMattman, A | |
| 700 | 1 | _avan Karnebeek, C D | |
| 700 | 1 | _aThorburn, D R | |
| 700 | 1 | _aRodenburg, R J | |
| 700 | 1 | _aChristodoulou, J | |
| 773 | 0 |
_tJIMD reports _gvol. 33 _gp. 99-107 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/8904_2016_559 _zAvailable from publisher's website |
| 999 |
_c26258330 _d26258330 |
||