LEADER 01085nam0-22003251i-450- 001 990004942820403321 005 20161019144021.0 035 $a000494282 035 $aFED01000494282 035 $a(Aleph)000494282FED01 035 $a000494282 100 $a19990604g19579999km-y0itay50------ba 101 0 $aita 105 $ay-------001yy 200 1 $a<>feudalismo$fF. L. Ganshof$gprólogo y apèndice sobre las instituciones feudales en España por Luis G. De Valdeavellano 205 $a3. ed. 210 $aBarcelona$cAriel$d1957 215 $a320 p.$d23 cm 225 1 $aCollecion zetein. Estudios y ensayos$v11 300 $aTitulo original "Qu'est-ce que la fèodalitT?". - Si possiede l'opera in lingua originale; DI 202 2 ed. 1947. - 676 $a321.3 700 1$aGanshof,$bFrançois Louis$f<1895-1980>$0412759 702 1$aValdeavellano,$bLuis G. de 801 0$aIT$bUNINA$gRICA$2UNIMARC 901 $aBK 912 $a990004942820403321 952 $a321.3 GAN 2$bFil. Mod. 12085$fFLFBC 959 $aFLFBC 996 $aFeudalismo$9527183 997 $aUNINA LEADER 03070nam 2200757z- 450 001 9910557494603321 005 20220111 035 $a(CKB)5400000000042885 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/76581 035 $a(oapen)doab76581 035 $a(EXLCZ)995400000000042885 100 $a20202201d2021 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aNewborn Screening for Pompe Disease 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2021 215 $a1 online resource (146 p.) 311 08$a3-0365-0580-6 311 08$a3-0365-0581-4 330 $aPompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease. 606 $aTechnology: general issues$2bicssc 610 $aacid ?-glucosidase 610 $aalpha glucosidase 610 $ac.-32-13T& 610 $aCalifornia 610 $across-reactive immunologic material 610 $adiagnosis 610 $adried blood spots 610 $aenzyme replacement therapy 610 $afollow-up 610 $aG 610 $aGAA sequencing 610 $agenotype-phenotype correlation 610 $agt 610 $aimmune modulation therapy 610 $ainfantile onset Pompe disease 610 $ainfantile-onset 610 $ainfantile-onset Pompe disease 610 $alate onset Pompe disease 610 $alate-onset 610 $alysosomal storage diseases 610 $an/a 610 $anew disorders implementation 610 $anewborn screening 610 $anext generation sequencing 610 $apatient perspective 610 $aPompe disease 610 $aPompe disease diagnostics testing 610 $apresymptomatic 610 $apseudodeficiency 610 $atreatment and follow-up 610 $avariant cut-off 615 7$aTechnology: general issues 700 $aHwu$b Wuh-Liang$4edt$01302774 702 $aChien$b Yin-Hsiu$4edt 702 $aWang$b Raymond$4edt 702 $aHwu$b Wuh-Liang$4oth 702 $aChien$b Yin-Hsiu$4oth 702 $aWang$b Raymond$4oth 906 $aBOOK 912 $a9910557494603321 996 $aNewborn Screening for Pompe Disease$93026551 997 $aUNINA