000 01403 a2200433 4500
005 20250513071639.0
264 0 _c19940303
008 199403s 0 0 eng d
022 _a0141-8955
024 7 _a10.1007/BF00714273
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGuffon, N
245 0 0 _a2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case.
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_c1993
300 _a821-30 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAcidosis, Lactic
_xblood
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aHumans
650 0 4 _aKetoglutarate Dehydrogenase Complex
_xdeficiency
650 0 4 _aMale
650 0 4 _aMuscles
_xmetabolism
650 0 4 _aOxidation-Reduction
650 0 4 _aPsychotic Disorders
_xenzymology
700 1 _aLopez-Mediavilla, C
700 1 _aDumoulin, R
700 1 _aMousson, B
700 1 _aGodinot, C
700 1 _aCarrier, H
700 1 _aCollombet, J M
700 1 _aDivry, P
700 1 _aMathieu, M
700 1 _aGuibaud, P
773 0 _tJournal of inherited metabolic disease
_gvol. 16
_gno. 5
_gp. 821-30
856 4 0 _uhttps://doi.org/10.1007/BF00714273
_zAvailable from publisher's website
999 _c8294678
_d8294678