000			01427 a2200421 4500
005			20250514030016.0
264		0	_c20020918
008			200209s 0 0 eng d
022			_a0141-8955
024	7		_a10.1023/a:1013908728445 _2doi
040			_aNLM _beng _cNLM
100	1		_aVilarinho, L
245	0	0	_aClinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. _h[electronic resource]
260			_bJournal of inherited metabolic disease _cDec 2001
300			_a883-4 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdenosine Triphosphatases _xgenetics
650	0	4	_aAdenosine Triphosphate _xbiosynthesis
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aDNA, Mitochondrial _xgenetics
650	0	4	_aEnergy Metabolism _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aLeigh Disease _xenzymology
650	0	4	_aMale
650	0	4	_aMembrane Potentials _xgenetics
650	0	4	_aPoint Mutation
700	1		_aBarbot, C
700	1		_aCarrozzo, R
700	1		_aCalado, E
700	1		_aTessa, A
700	1		_aDionisi-Vici, C
700	1		_aGuimarães, A
700	1		_aSantorelli, F M
773	0		_tJournal of inherited metabolic disease _gvol. 24 _gno. 8 _gp. 883-4
856	4	0	_uhttps://doi.org/10.1023/a:1013908728445 _zAvailable from publisher's website
999			_c11821578 _d11821578