000 | 01468 a2200421 4500 | ||
---|---|---|---|
005 | 20250517210206.0 | ||
264 | 0 | _c20180905 | |
008 | 201809s 0 0 eng d | ||
022 | _a1422-0067 | ||
024 | 7 |
_a10.3390/ijms19041010 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aPuisac, Beatriz | |
245 | 0 | 0 |
_aHuman Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. _h[electronic resource] |
260 |
_bInternational journal of molecular sciences _cMar 2018 |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAmino Acid Substitution |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHydroxymethylglutaryl-CoA Synthase _xdeficiency |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMetabolism, Inborn Errors _xenzymology |
650 | 0 | 4 |
_aMitochondrial Proteins _xdeficiency |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aProtein Multimerization |
700 | 1 | _aMarcos-Alcalde, Iñigo | |
700 | 1 | _aHernández-Marcos, María | |
700 | 1 | _aTobajas Morlana, Pilar | |
700 | 1 | _aLevtova, Alina | |
700 | 1 | _aSchwahn, Bernd C | |
700 | 1 | _aDeLaet, Corinne | |
700 | 1 | _aLace, Baiba | |
700 | 1 | _aGómez-Puertas, Paulino | |
700 | 1 | _aPié, Juan | |
773 | 0 |
_tInternational journal of molecular sciences _gvol. 19 _gno. 4 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.3390/ijms19041010 _zAvailable from publisher's website |
999 |
_c28231845 _d28231845 |