000 | 02048 a2200541 4500 | ||
---|---|---|---|
005 | 20250517024205.0 | ||
264 | 0 | _c20160714 | |
008 | 201607s 0 0 eng d | ||
022 | _a1530-0366 | ||
024 | 7 |
_a10.1038/gim.2015.22 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDiekman, Eugene F | |
245 | 0 | 0 |
_aFatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. _h[electronic resource] |
260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _cDec 2015 |
||
300 |
_a989-94 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_a3-Hydroxyacyl CoA Dehydrogenases _xmetabolism |
650 | 0 | 4 |
_aAcetyl-CoA C-Acyltransferase _xmetabolism |
650 | 0 | 4 |
_aAcyl-CoA Dehydrogenase, Long-Chain _xdeficiency |
650 | 0 | 4 | _aBiomarkers |
650 | 0 | 4 |
_aCarbon-Carbon Double Bond Isomerases _xmetabolism |
650 | 0 | 4 | _aCongenital Bone Marrow Failure Syndromes |
650 | 0 | 4 | _aDenmark |
650 | 0 | 4 |
_aEnoyl-CoA Hydratase _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xdiagnosis |
650 | 0 | 4 |
_aMitochondrial Diseases _xdiagnosis |
650 | 0 | 4 |
_aMuscular Diseases _xdiagnosis |
650 | 0 | 4 | _aNeonatal Screening |
650 | 0 | 4 | _aOxidation-Reduction |
650 | 0 | 4 |
_aRacemases and Epimerases _xmetabolism |
650 | 0 | 4 | _aSeverity of Illness Index |
700 | 1 | _aFerdinandusse, Sacha | |
700 | 1 | _avan der Pol, Ludo | |
700 | 1 | _aWaterham, Hans R | |
700 | 1 | _aRuiter, Jos P N | |
700 | 1 | _aIjlst, Lodewijk | |
700 | 1 | _aWanders, Ronald J | |
700 | 1 | _aHouten, Sander M | |
700 | 1 | _aWijburg, Frits A | |
700 | 1 | _aBlank, A Christiaan | |
700 | 1 | _aAsselbergs, Folkert W | |
700 | 1 | _aHoutkooper, Riekelt H | |
700 | 1 | _aVisser, Gepke | |
773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 17 _gno. 12 _gp. 989-94 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2015.22 _zAvailable from publisher's website |
999 |
_c24767273 _d24767273 |