| 000 | 02230 a2200649 4500 | ||
|---|---|---|---|
| 005 | 20250518015527.0 | ||
| 264 | 0 | _c20200615 | |
| 008 | 202006s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/s41431-018-0330-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNavarrete, Rosa | |
| 245 | 0 | 0 |
_aValue of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c04 2019 |
||
| 300 |
_a556-562 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 |
_aSpain _xepidemiology |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aLeal, Fátima | |
| 700 | 1 | _aVega, Ana I | |
| 700 | 1 | _aMorais-López, Ana | |
| 700 | 1 | _aGarcia-Silva, María Teresa | |
| 700 | 1 | _aMartín-Hernández, Elena | |
| 700 | 1 | _aQuijada-Fraile, Pilar | |
| 700 | 1 | _aBergua, Ana | |
| 700 | 1 | _aVives, Inmaculada | |
| 700 | 1 | _aGarcía-Jiménez, Inmaculada | |
| 700 | 1 | _aYahyaoui, Raquel | |
| 700 | 1 | _aPedrón-Giner, Consuelo | |
| 700 | 1 | _aBelanger-Quintana, Amaya | |
| 700 | 1 | _aStanescu, Sinziana | |
| 700 | 1 | _aCañedo, Elvira | |
| 700 | 1 | _aGarcía-Campos, Oscar | |
| 700 | 1 | _aBueno-Delgado, María | |
| 700 | 1 | _aDelgado-Pecellín, Carmen | |
| 700 | 1 | _aVitoria, Isidro | |
| 700 | 1 | _aRausell, María Dolores | |
| 700 | 1 | _aBalmaseda, Elena | |
| 700 | 1 | _aCouce, Mari Luz | |
| 700 | 1 | _aDesviat, Lourdes R | |
| 700 | 1 | _aMerinero, Begoña | |
| 700 | 1 | _aRodríguez-Pombo, Pilar | |
| 700 | 1 | _aUgarte, Magdalena | |
| 700 | 1 | _aPérez-Cerdá, Celia | |
| 700 | 1 | _aPérez, Belén | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 27 _gno. 4 _gp. 556-562 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41431-018-0330-0 _zAvailable from publisher's website |
| 999 |
_c29238312 _d29238312 |
||