| 000 | 01213 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517153630.0 | ||
| 264 | 0 | _c20180605 | |
| 008 | 201806s 0 0 eng d | ||
| 022 | _a1439-1899 | ||
| 024 | 7 |
_a10.1055/s-0037-1602833 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSequeira, Sílvia | |
| 245 | 0 | 0 |
_aMEGDEL Syndrome: Expanding the Phenotype and New Mutations. _h[electronic resource] |
| 260 |
_bNeuropediatrics _c10 2017 |
||
| 300 |
_a382-384 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBrain _xdiagnostic imaging |
| 650 | 0 | 4 |
_aBrain Diseases _xdiagnostic imaging |
| 650 | 0 | 4 |
_aCarboxylic Ester Hydrolases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xdiagnostic imaging |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aRodrigues, Márcia | |
| 700 | 1 | _aJacinto, Sandra | |
| 700 | 1 | _aWevers, Ron A | |
| 700 | 1 | _aWortmann, Saskia B | |
| 773 | 0 |
_tNeuropediatrics _gvol. 48 _gno. 5 _gp. 382-384 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1055/s-0037-1602833 _zAvailable from publisher's website |
| 999 |
_c27174756 _d27174756 |
||