000			02002 a2200637 4500
005			20250517113129.0
264		0	_c20170602
008			201706s 0 0 eng d
022			_a1399-0004
024	7		_a10.1111/cge.12855 _2doi
040			_aNLM _beng _cNLM
100	1		_aShahrour, M A
245	0	0	_aMitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. _h[electronic resource]
260			_bClinical genetics _cMay 2017
300			_a690-696 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAdenosine Triphosphatases _xdeficiency
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aEpilepsy _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xdeficiency
650	0	4	_aMembrane Transport Proteins _xgenetics
650	0	4	_aMetabolism, Inborn Errors _xgenetics
650	0	4	_aMitochondrial Encephalomyopathies _xgenetics
650	0	4	_aMitochondrial Precursor Protein Import Complex Proteins
650	0	4	_aMitochondrial Proton-Translocating ATPases
650	0	4	_aMutation
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aPregnancy
700	1		_aStaretz-Chacham, O
700	1		_aDayan, D
700	1		_aStephen, J
700	1		_aWeech, A
700	1		_aDamseh, N
700	1		_aPri Chen, H
700	1		_aEdvardson, S
700	1		_aMazaheri, S
700	1		_aSaada, A
700	1		_aHershkovitz, E
700	1		_aShaag, A
700	1		_aHuizing, M
700	1		_aAbu-Libdeh, B
700	1		_aGahl, W A
700	1		_aAzem, A
700	1		_aAnikster, Y
700	1		_aVilboux, T
700	1		_aElpeleg, O
700	1		_aMalicdan, M C
773	0		_tClinical genetics _gvol. 91 _gno. 5 _gp. 690-696
856	4	0	_uhttps://doi.org/10.1111/cge.12855 _zAvailable from publisher's website
999			_c26370968 _d26370968