000 01579 a2200493 4500
005 20250517152337.0
264 0 _c20170905
008 201709s 0 0 eng d
022 _a1932-6203
024 7 _a10.1371/journal.pone.0176363
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAbela, Lucia
245 0 0 _aPlasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
_h[electronic resource]
260 _bPloS one
_c2017
300 _ae0176363 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAconitate Hydratase
_xdeficiency
650 0 4 _aAconitic Acid
_xblood
650 0 4 _aAdolescent
650 0 4 _aBiomarkers
_xblood
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aFemale
650 0 4 _aHeredodegenerative Disorders, Nervous System
_xblood
650 0 4 _aHumans
650 0 4 _aHydroxybutyrates
_xblood
650 0 4 _aIsocitrates
_xblood
650 0 4 _aKetoglutaric Acids
_xblood
650 0 4 _aMale
650 0 4 _aMetabolomics
_xmethods
650 0 4 _aPhosphoenolpyruvate
_xblood
700 1 _aSpiegel, Ronen
700 1 _aCrowther, Lisa M
700 1 _aKlein, Andrea
700 1 _aSteindl, Katharina
700 1 _aPapuc, Sorina Mihaela
700 1 _aJoset, Pascal
700 1 _aZehavi, Yoav
700 1 _aRauch, Anita
700 1 _aPlecko, Barbara
700 1 _aSimmons, Thomas Luke
773 0 _tPloS one
_gvol. 12
_gno. 5
_gp. e0176363
856 4 0 _uhttps://doi.org/10.1371/journal.pone.0176363
_zAvailable from publisher's website
999 _c27133998
_d27133998