000			02169 a2200625 4500
005			20250516204122.0
264		0	_c20150102
008			201501s 0 0 eng d
022			_a1578-8989
024	7		_a10.1016/j.medcli.2014.01.032 _2doi
040			_aNLM _beng _cNLM
100	1		_aSan Román-Monserrat, Irene
245	0	0	_aComprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. _h[electronic resource]
260			_bMedicina clinica _cJun 2014
300			_a497-504 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAdult
650	0	4	_aAge of Onset
650	0	4	_aAmino Acid Substitution
650	0	4	_aArrhythmias, Cardiac _xetiology
650	0	4	_aBrain _xpathology
650	0	4	_aEnzyme Replacement Therapy
650	0	4	_aEye Diseases _xetiology
650	0	4	_aFabry Disease _xcomplications
650	0	4	_aFemale
650	0	4	_aGenotype
650	0	4	_aHeart Arrest _xetiology
650	0	4	_aHeart Transplantation
650	0	4	_aHumans
650	0	4	_aHypertrophy, Left Ventricular _xetiology
650	0	4	_aKidney _xpathology
650	0	4	_aKidney Diseases, Cystic _xetiology
650	0	4	_aKidney Failure, Chronic _xetiology
650	0	4	_aKidney Transplantation
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMutation, Missense
650	0	4	_aMyocardium _xpathology
650	0	4	_aPedigree
650	0	4	_aPoint Mutation
650	0	4	_aSpain _xepidemiology
650	0	4	_aalpha-Galactosidase _xgenetics
700	1		_aMoreno-Flores, Victoria
700	1		_aLópez-Cuenca, David
700	1		_aRodríguez-González-Herrero, Elena
700	1		_aGuillén-Navarro, Encarna
700	1		_aRodríguez-González-Herrero, Beatriz
700	1		_aAlegría-Fernández, Marisol
700	1		_aPoza-Cisneros, Gabriela
700	1		_aPiñero-Fernández, Juan A
700	1		_aSornichero-Martínez, Javier
700	1		_aGimeno-Blanes, Juan R
773	0		_tMedicina clinica _gvol. 142 _gno. 11 _gp. 497-504
856	4	0	_uhttps://doi.org/10.1016/j.medcli.2014.01.032 _zAvailable from publisher's website
999			_c23687108 _d23687108