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Current Challenges in Cardiovascular Molecular Diagnostics
| Current Challenges in Cardiovascular Molecular Diagnostics |
| Autore | Carlo Napolitano |
| Pubbl/distr/stampa | Frontiers Media SA, 2017 |
| Descrizione fisica | 1 online resource (128 p.) |
| Collana | Frontiers Research Topics |
| Soggetto topico | Medicine |
| Soggetto non controllato |
cardiomyopathy
Cardiovascular Diseases Cardiovascular genetics channelopathy Genetic Testing genetic variants NGS Sudden cardiac death variant interpretation |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910261141803321 |
Carlo Napolitano
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| Frontiers Media SA, 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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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 |
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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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