| 000 | 01359 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250514055732.0 | ||
| 264 | 0 | _c20030228 | |
| 008 | 200302s 0 0 eng d | ||
| 022 | _a0364-5134 | ||
| 024 | 7 |
_a10.1002/ana.10478 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDey, Runu | |
| 245 | 0 | 0 |
_aA new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. _h[electronic resource] |
| 260 |
_bAnnals of neurology _cFeb 2003 |
||
| 300 |
_a273-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcidosis, Lactic _xcongenital |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aInfant, Newborn, Diseases _xenzymology |
| 650 | 0 | 4 | _aPolymorphism, Restriction Fragment Length |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase (Lipoamide) _xgenetics |
| 650 | 0 | 4 |
_aPyruvate Dehydrogenase Complex _xgenetics |
| 700 | 1 | _aMine, Manuele | |
| 700 | 1 | _aDesguerre, Isabelle | |
| 700 | 1 | _aSlama, Abdelhamid | |
| 700 | 1 | _aVan Den Berghe, Loic | |
| 700 | 1 | _aBrivet, Michèle | |
| 700 | 1 | _aAral, Bernard | |
| 700 | 1 | _aMarsac, Cécile | |
| 773 | 0 |
_tAnnals of neurology _gvol. 53 _gno. 2 _gp. 273-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ana.10478 _zAvailable from publisher's website |
| 999 |
_c12356444 _d12356444 |
||