| 000 | 01529 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513055210.0 | ||
| 264 | 0 | _c19940818 | |
| 008 | 199408s 0 0 eng d | ||
| 022 | _a0006-8950 | ||
| 024 | 7 |
_a10.1093/brain/117.3.435 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMatthews, P M | |
| 245 | 0 | 0 |
_aPyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. _h[electronic resource] |
| 260 |
_bBrain : a journal of neurology _cJun 1994 |
||
| 300 |
_a435-43 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation, Enzymologic |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex Deficiency Disease _xgenetics |
| 650 | 0 | 4 | _aX Chromosome |
| 700 | 1 | _aBrown, R M | |
| 700 | 1 | _aOtero, L J | |
| 700 | 1 | _aMarchington, D R | |
| 700 | 1 | _aLeGris, M | |
| 700 | 1 | _aHowes, R | |
| 700 | 1 | _aMeadows, L S | |
| 700 | 1 | _aShevell, M | |
| 700 | 1 | _aScriver, C R | |
| 700 | 1 | _aBrown, G K | |
| 773 | 0 |
_tBrain : a journal of neurology _gvol. 117 ( Pt 3) _gp. 435-43 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/brain/117.3.435 _zAvailable from publisher's website |
| 999 |
_c8032183 _d8032183 |
||