000			02094 a2200625 4500
005			20250517004525.0
264		0	_c20150716
008			201507s 0 0 eng d
022			_a1096-7206
024	7		_a10.1016/j.ymgme.2014.09.010 _2doi
040			_aNLM _beng _cNLM
100	1		_aBanka, Siddharth
245	0	0	_aExpanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. _h[electronic resource]
260			_bMolecular genetics and metabolism _cDec 2014
300			_a301-6 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAcidosis, Lactic
650	0	4	_aAmino Acid Sequence
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aModels, Molecular
650	0	4	_aMutation
650	0	4	_aNervous System Diseases _xdrug therapy
650	0	4	_aPhenotype
650	0	4	_aProtein Conformation
650	0	4	_aProtein Multimerization
650	0	4	_aThiamin Pyrophosphokinase _xchemistry
650	0	4	_aThiamine _xadministration & dosage
650	0	4	_aThiamine Pyrophosphate _xmetabolism
700	1		_ade Goede, Christian
700	1		_aYue, Wyatt W
700	1		_aMorris, Andrew A M
700	1		_avon Bremen, Beate
700	1		_aChandler, Kate E
700	1		_aFeichtinger, René G
700	1		_aHart, Claire
700	1		_aKhan, Nasaim
700	1		_aLunzer, Verena
700	1		_aMataković, Lavinija
700	1		_aMarquardt, Thorsten
700	1		_aMakowski, Christine
700	1		_aProkisch, Holger
700	1		_aDebus, Otfried
700	1		_aNosaka, Kazuto
700	1		_aSonwalkar, Hemant
700	1		_aZimmermann, Franz A
700	1		_aSperl, Wolfgang
700	1		_aMayr, Johannes A
773	0		_tMolecular genetics and metabolism _gvol. 113 _gno. 4 _gp. 301-6
856	4	0	_uhttps://doi.org/10.1016/j.ymgme.2014.09.010 _zAvailable from publisher's website
999			_c24412651 _d24412651