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