000 01478 a2200409 4500
005 20250516114540.0
264 0 _c20140519
008 201405s 0 0 eng d
022 _a1573-2665
024 7 _a10.1007/s10545-012-9545-3
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGallego-Villar, Lorena
245 0 0 _aFunctional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_cSep 2013
300 _a731-40 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aApoptosis
_xgenetics
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aGenetic Association Studies
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aMAP Kinase Signaling System
_xgenetics
650 0 4 _aMitochondria
_xgenetics
650 0 4 _aMutation, Missense
650 0 4 _aOxidative Stress
_xgenetics
650 0 4 _aPoint Mutation
650 0 4 _aPropionic Acidemia
_xgenetics
650 0 4 _aReactive Oxygen Species
_xmetabolism
700 1 _aPérez-Cerdá, Celia
700 1 _aPérez, Belén
700 1 _aAbia, David
700 1 _aUgarte, Magdalena
700 1 _aRichard, Eva
700 1 _aDesviat, Lourdes R
773 0 _tJournal of inherited metabolic disease
_gvol. 36
_gno. 5
_gp. 731-40
856 4 0 _uhttps://doi.org/10.1007/s10545-012-9545-3
_zAvailable from publisher's website
999 _c22173474
_d22173474