000			02153 a2200625 4500
005			20250515232958.0
264		0	_c20140408
008			201404s 0 0 eng d
022			_a1573-2665
024	7		_a10.1007/s10545-010-9169-4 _2doi
040			_aNLM _beng _cNLM
100	1		_aQuintana, Ester
245	0	0	_aDihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. _h[electronic resource]
260			_bJournal of inherited metabolic disease _cDec 2010
300			_aS315-9 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAcidosis, Lactic _xdiagnosis
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aBase Sequence
650	0	4	_aBiomarkers _xblood
650	0	4	_aBlepharoptosis _xdiagnosis
650	0	4	_aCells, Cultured
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDietary Supplements
650	0	4	_aFemale
650	0	4	_aGenetic Predisposition to Disease
650	0	4	_aHeredity
650	0	4	_aHeterozygote
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aLactic Acid _xblood
650	0	4	_aMaple Syrup Urine Disease _xdiagnosis
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscle Strength _xgenetics
650	0	4	_aMuscle Weakness _xdiagnosis
650	0	4	_aMutation, Missense
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPhotophobia _xdiagnosis
650	0	4	_aProtein Structure, Tertiary
650	0	4	_aPyruvate Dehydrogenase Complex Deficiency Disease _xdiagnosis
650	0	4	_aSpain
650	0	4	_aThiamine _xtherapeutic use
650	0	4	_aThioctic Acid _xanalogs & derivatives
650	0	4	_aTreatment Outcome
700	1		_aPineda, Mercé
700	1		_aFont, Aida
700	1		_aVilaseca, Maria Antonia
700	1		_aTort, Frederic
700	1		_aRibes, Antonia
700	1		_aBriones, Paz
773	0		_tJournal of inherited metabolic disease _gvol. 33 Suppl 3 _gp. S315-9
856	4	0	_uhttps://doi.org/10.1007/s10545-010-9169-4 _zAvailable from publisher's website
999			_c19992919 _d19992919