000			02055 a2200613 4500
005			20250516112426.0
264		0	_c20131017
008			201310s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/ejhg.2012.202 _2doi
040			_aNLM _beng _cNLM
100	1		_aFragaki, Konstantina
245	0	0	_aRefractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cMay 2013
300			_a528-34 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAlkyl and Aryl Transferases _xgenetics
650	0	4	_aAnnexin A5 _xmetabolism
650	0	4	_aBase Sequence
650	0	4	_aBrain _xpathology
650	0	4	_aCells, Cultured
650	0	4	_aChild
650	0	4	_aEpilepsy _xpathology
650	0	4	_aExome _xgenetics
650	0	4	_aFibroblasts _xmetabolism
650	0	4	_aGlobosides _xmetabolism
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMass Spectrometry
650	0	4	_aMembrane Potential, Mitochondrial _xphysiology
650	0	4	_aMicrosatellite Repeats _xgenetics
650	0	4	_aMitochondrial Diseases _xpathology
650	0	4	_aMolecular Sequence Data
650	0	4	_aPedigree
650	0	4	_aPolymerase Chain Reaction
650	0	4	_aSequence Analysis, DNA
650	0	4	_aSialyltransferases _xdeficiency
650	0	4	_aSpectrophotometry
700	1		_aAit-El-Mkadem, Samira
700	1		_aChaussenot, Annabelle
700	1		_aGire, Catherine
700	1		_aMengual, Raymond
700	1		_aBonesso, Laurent
700	1		_aBénéteau, Marie
700	1		_aRicci, Jean-Ehrland
700	1		_aDesquiret-Dumas, Valérie
700	1		_aProcaccio, Vincent
700	1		_aRötig, Agnès
700	1		_aPaquis-Flucklinger, Véronique
773	0		_tEuropean journal of human genetics : EJHG _gvol. 21 _gno. 5 _gp. 528-34
856	4	0	_uhttps://doi.org/10.1038/ejhg.2012.202 _zAvailable from publisher's website
999			_c22115663 _d22115663