| 000 | 01448 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250517195925.0 | ||
| 264 | 0 | _c20190501 | |
| 008 | 201905s 0 0 spa d | ||
| 022 | _a1665-1146 | ||
| 024 | 7 |
_a10.1016/j.bmhimx.2017.07.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEsmer, Carmen | |
| 245 | 0 | 0 |
_a[Association between homozygous c.318A>GT mutation in exon 2 of the EIF2B5 gene and the infantile form of vanishing white matter leukoencephalopathy]. _h[electronic resource] |
| 260 |
_bBoletin medico del Hospital Infantil de Mexico _c |
||
| 300 |
_a364-369 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xdiagnosis |
| 650 | 0 | 4 |
_aMagnetic Resonance Imaging _xmethods |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aTomography, X-Ray Computed _xmethods |
| 700 | 1 | _aBlanco Hernández, Gabriela | |
| 700 | 1 | _aSaavedra Alanís, Víctor | |
| 700 | 1 | _aReyes Vaca, Jorge Guillermo | |
| 700 | 1 | _aBravo Oro, Antonio | |
| 773 | 0 |
_tBoletin medico del Hospital Infantil de Mexico _gvol. 74 _gno. 5 _gp. 364-369 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.bmhimx.2017.07.002 _zAvailable from publisher's website |
| 999 |
_c28026323 _d28026323 |
||