Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches 

<br/><br/><br/>English[eng] 
<br/><br/><label>ISBN: </label>9783040000000 
<br/><br/><label>Subjects--Topical Terms: </label><br/>mucopolysaccharidosis IIIB||quantitative proteomics||NAGLU||lysosomes||Gaucher disease||bone involvement||enzyme replacement therapy||substrate reduction therapy||Osteoimmunology||RANK/RANKL||Osteopontin||MIP-1β||mucolipidosis II||sortilin||TGF-beta||cathepsin D||Fabry disease||alpha-galactosidase A||endocytosis||lysosome||IGF2R/M6P||clathrin||chloroquine||lysosomal diseases||precision medicine||pharmacological chaperones||gene therapy.||Pompe disease||lysosomal targeting||autophagy||gene therapy||muscle||satellite cells||rhGAA||glycogen||lysosomal α-glucosidase||GAA biomarker||Gaucher Disease||Wnt/β-catenin||Dkk1||Wnt3a||iPSC||neuronopathy||Krabbe disease||Twitcher mouse||psychosine||visual system||visual cortex||astrogliosis||mucopolysaccharidosis type I||Hurler syndrome||hematopoietic stem cell transplantations||animal models||experimental therapies||axon guidance||lysosomal storage disorders||neuronal circuit||α-galactosidase A||A4GALT||globotriaosylceramide (Gb3)||globotriaosyl-sphingosine (lysoGb3)||pharmacological chaperone therapy||exosomes||endocytic pathways||neurodegenerative disease||Parkinson disease||lysosomal storage disorder||viral vectors||newborn screening||variant interpretation||second tier test||tandem mass spectrometry||lyso-Gb3||dried blood spot||GLA gene||globotriaosylsphingosine||biomarkers