LEADER 04512nam 2201261z- 450 001 9910557545503321 005 20231214133615.0 035 $a(CKB)5400000000044152 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/76883 035 $a(EXLCZ)995400000000044152 100 $a20202201d2021 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aLysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2021 215 $a1 electronic resource (301 p.) 311 $a3-0365-1967-X 311 $a3-0365-1966-1 330 $aLysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases. 517 $aLysosomal Storage Disorders 606 $aMedicine$2bicssc 610 $amucopolysaccharidosis IIIB 610 $aquantitative proteomics 610 $aNAGLU 610 $alysosomes 610 $aGaucher disease 610 $abone involvement 610 $aenzyme replacement therapy 610 $asubstrate reduction therapy 610 $aOsteoimmunology 610 $aRANK/RANKL 610 $aOsteopontin 610 $aMIP-1? 610 $amucolipidosis II 610 $asortilin 610 $aTGF-beta 610 $acathepsin D 610 $aFabry disease 610 $aalpha-galactosidase A 610 $aendocytosis 610 $alysosome 610 $aIGF2R/M6P 610 $aclathrin 610 $achloroquine 610 $alysosomal diseases 610 $aprecision medicine 610 $apharmacological chaperones 610 $agene therapy. 610 $aPompe disease 610 $alysosomal targeting 610 $aautophagy 610 $agene therapy 610 $amuscle 610 $asatellite cells 610 $arhGAA 610 $aglycogen 610 $alysosomal ?-glucosidase 610 $aGAA biomarker 610 $aGaucher Disease 610 $aWnt/?-catenin 610 $aDkk1 610 $aWnt3a 610 $aiPSC 610 $aneuronopathy 610 $aKrabbe disease 610 $aTwitcher mouse 610 $apsychosine 610 $avisual system 610 $avisual cortex 610 $aastrogliosis 610 $amucopolysaccharidosis type I 610 $aHurler syndrome 610 $ahematopoietic stem cell transplantations 610 $aanimal models 610 $aexperimental therapies 610 $aaxon guidance 610 $alysosomal storage disorders 610 $aneuronal circuit 610 $a?-galactosidase A 610 $aA4GALT 610 $aglobotriaosylceramide (Gb3) 610 $aglobotriaosyl-sphingosine (lysoGb3) 610 $apharmacological chaperone therapy 610 $aexosomes 610 $aendocytic pathways 610 $aneurodegenerative disease 610 $aParkinson disease 610 $alysosomal storage disorder 610 $aviral vectors 610 $anewborn screening 610 $avariant interpretation 610 $asecond tier test 610 $atandem mass spectrometry 610 $alyso-Gb3 610 $adried blood spot 610 $aGLA gene 610 $aglobotriaosylsphingosine 610 $abiomarkers 615 7$aMedicine 700 $aMoro$b Enrico$4edt$01312709 702 $aMoro$b Enrico$4oth 906 $aBOOK 912 $a9910557545503321 996 $aLysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches$93030941 997 $aUNINA