000063205 001__ 63205
000063205 005__ 20190709135517.0
000063205 0247_ $$2doi$$a10.5546/aap.2017.e279
000063205 0248_ $$2sideral$$a101939
000063205 037__ $$aART-2017-101939
000063205 041__ $$aspa
000063205 100__ $$aLópez Úbeda, Marta
000063205 245__ $$aAdrenoleucodistrofia ligada al X: presentación de tres casos. Importancia del diagnóstico precoz
000063205 260__ $$c2017
000063205 5060_ $$aAccess copy available to the general public$$fUnrestricted
000063205 5203_ $$aX-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.
000063205 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000063205 590__ $$a0.405$$b2017
000063205 591__ $$aPEDIATRICS$$b118 / 124 = 0.952$$c2017$$dQ4$$eT3
000063205 592__ $$a0.184$$b2017
000063205 593__ $$aPediatrics, Perinatology and Child Health$$c2017$$dQ3
000063205 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000063205 700__ $$0(orcid)0000-0002-2865-5813$$aArriba Muñoz, Antonio de$$uUniversidad de Zaragoza
000063205 700__ $$0(orcid)0000-0002-5750-7350$$aFerrer Lozano, Marta
000063205 700__ $$0(orcid)0000-0003-2832-2266$$aLabarta Aizpún, José Ignacio$$uUniversidad de Zaragoza
000063205 700__ $$0(orcid)0000-0002-5563-3177$$aGarcía Jiménez, María C.$$uUniversidad de Zaragoza
000063205 7102_ $$11006$$2245$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Educación Física y Depor.
000063205 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría
000063205 773__ $$g115, 5 (2017), e279-e281$$pArch. argent. pediatr.$$tArchivos Argentinos de Pediatria$$x0325-0075
000063205 8564_ $$s189730$$uhttps://zaguan.unizar.es/record/63205/files/texto_completo.pdf$$yVersión publicada
000063205 8564_ $$s106758$$uhttps://zaguan.unizar.es/record/63205/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000063205 909CO $$ooai:zaguan.unizar.es:63205$$particulos$$pdriver
000063205 951__ $$a2019-07-09-11:55:58
000063205 980__ $$aARTICLE