| 000 | 01773 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517212509.0 | ||
| 264 | 0 | _c20190225 | |
| 008 | 201902s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-018-0566-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLisyová, Jana | |
| 245 | 0 | 0 |
_aAn unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. _h[electronic resource] |
| 260 |
_bBMC medical genetics _c04 2018 |
||
| 300 |
_a64 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAcyl-CoA Dehydrogenase _xdeficiency |
| 650 | 0 | 4 |
_aButyryl-CoA Dehydrogenase _xgenetics |
| 650 | 0 | 4 |
_aCarnitine _xanalogs & derivatives |
| 650 | 0 | 4 |
_aEthnicity _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xethnology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeonatal Screening _xmethods |
| 650 | 0 | 4 | _aPolymorphism, Restriction Fragment Length |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSlovakia _xethnology |
| 700 | 1 | _aChandoga, Ján | |
| 700 | 1 | _aJungová, Petra | |
| 700 | 1 | _aRepiský, Marcel | |
| 700 | 1 | _aKnapková, Mária | |
| 700 | 1 | _aMachková, Martina | |
| 700 | 1 | _aDluholucký, Svetozár | |
| 700 | 1 | _aBehúlová, Darina | |
| 700 | 1 | _aŠaligová, Jana | |
| 700 | 1 | _aPotočňáková, Ľudmila | |
| 700 | 1 | _aLysinová, Miroslava | |
| 700 | 1 | _aBöhmer, Daniel | |
| 773 | 0 |
_tBMC medical genetics _gvol. 19 _gno. 1 _gp. 64 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-018-0566-0 _zAvailable from publisher's website |
| 999 |
_c28309676 _d28309676 |
||