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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
A4GALT
alpha-galactosidase A animal models astrogliosis autophagy axon guidance biomarkers bone involvement cathepsin D chloroquine clathrin Dkk1 dried blood spot endocytic pathways endocytosis enzyme replacement therapy exosomes experimental therapies Fabry disease GAA biomarker Gaucher disease Gaucher Disease gene therapy GLA gene globotriaosyl-sphingosine (lysoGb3) globotriaosylceramide (Gb3) globotriaosylsphingosine glycogen hematopoietic stem cell transplantations Hurler syndrome IGF2R/M6P iPSC Krabbe disease lyso-Gb3 lysosomal diseases lysosomal storage disorder lysosomal storage disorders lysosomal targeting lysosomal α-glucosidase lysosome lysosomes MIP-1β mucolipidosis II mucopolysaccharidosis IIIB mucopolysaccharidosis type I muscle NAGLU neurodegenerative disease neuronal circuit neuronopathy newborn screening Osteoimmunology Osteopontin Parkinson disease pharmacological chaperone therapy pharmacological chaperones Pompe disease precision medicine psychosine quantitative proteomics RANK/RANKL rhGAA satellite cells second tier test sortilin substrate reduction therapy tandem mass spectrometry TGF-beta Twitcher mouse variant interpretation viral vectors visual cortex visual system Wnt/β-catenin Wnt3a α-galactosidase A |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
Moro Enrico
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Pompe Disease
| Newborn Screening for Pompe Disease |
| Autore | Hwu Wuh-Liang |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (146 p.) |
| Soggetto topico | Technology: general issues |
| Soggetto non controllato |
acid α-glucosidase
alpha glucosidase c.-32-13T& California cross-reactive immunologic material diagnosis dried blood spots enzyme replacement therapy follow-up G GAA sequencing genotype-phenotype correlation gt immune modulation therapy infantile onset Pompe disease infantile-onset infantile-onset Pompe disease late onset Pompe disease late-onset lysosomal storage diseases n/a new disorders implementation newborn screening next generation sequencing patient perspective Pompe disease Pompe disease diagnostics testing presymptomatic pseudodeficiency treatment and follow-up variant cut-off |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557494603321 |
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Hwu Wuh-Liang
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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