| 000 | 04584naaaa2201213uu 4500 | ||
|---|---|---|---|
| 001 | https://directory.doabooks.org/handle/20.500.12854/76883 | ||
| 005 | 20220220075224.0 | ||
| 020 | _abooks978-3-0365-1966-1 | ||
| 020 | _a9783036519678 | ||
| 020 | _a9783036519661 | ||
| 024 | 7 |
_a10.3390/books978-3-0365-1966-1 _cdoi |
|
| 041 | 0 | _aEnglish | |
| 042 | _adc | ||
| 072 | 7 |
_aM _2bicssc |
|
| 100 | 1 |
_aMoro, Enrico _4edt |
|
| 700 | 1 |
_aMoro, Enrico _4oth |
|
| 245 | 1 | 0 | _aLysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| 260 |
_aBasel, Switzerland _bMDPI - Multidisciplinary Digital Publishing Institute _c2021 |
||
| 300 | _a1 electronic resource (301 p.) | ||
| 506 | 0 |
_aOpen Access _2star _fUnrestricted online access |
|
| 520 | _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. | ||
| 540 |
_aCreative Commons _fhttps://creativecommons.org/licenses/by/4.0/ _2cc _4https://creativecommons.org/licenses/by/4.0/ |
||
| 546 | _aEnglish | ||
| 650 | 7 |
_aMedicine _2bicssc |
|
| 653 | _amucopolysaccharidosis IIIB | ||
| 653 | _aquantitative proteomics | ||
| 653 | _aNAGLU | ||
| 653 | _alysosomes | ||
| 653 | _aGaucher disease | ||
| 653 | _abone involvement | ||
| 653 | _aenzyme replacement therapy | ||
| 653 | _asubstrate reduction therapy | ||
| 653 | _aOsteoimmunology | ||
| 653 | _aRANK/RANKL | ||
| 653 | _aOsteopontin | ||
| 653 | _aMIP-1β | ||
| 653 | _amucolipidosis II | ||
| 653 | _asortilin | ||
| 653 | _aTGF-beta | ||
| 653 | _acathepsin D | ||
| 653 | _aFabry disease | ||
| 653 | _aalpha-galactosidase A | ||
| 653 | _aendocytosis | ||
| 653 | _alysosome | ||
| 653 | _aIGF2R/M6P | ||
| 653 | _aclathrin | ||
| 653 | _achloroquine | ||
| 653 | _alysosomal diseases | ||
| 653 | _aprecision medicine | ||
| 653 | _apharmacological chaperones | ||
| 653 | _agene therapy. | ||
| 653 | _aPompe disease | ||
| 653 | _alysosomal targeting | ||
| 653 | _aautophagy | ||
| 653 | _agene therapy | ||
| 653 | _amuscle | ||
| 653 | _asatellite cells | ||
| 653 | _arhGAA | ||
| 653 | _aglycogen | ||
| 653 | _alysosomal α-glucosidase | ||
| 653 | _aGAA biomarker | ||
| 653 | _aGaucher Disease | ||
| 653 | _aWnt/β-catenin | ||
| 653 | _aDkk1 | ||
| 653 | _aWnt3a | ||
| 653 | _aiPSC | ||
| 653 | _aneuronopathy | ||
| 653 | _aKrabbe disease | ||
| 653 | _aTwitcher mouse | ||
| 653 | _apsychosine | ||
| 653 | _avisual system | ||
| 653 | _avisual cortex | ||
| 653 | _aastrogliosis | ||
| 653 | _amucopolysaccharidosis type I | ||
| 653 | _aHurler syndrome | ||
| 653 | _ahematopoietic stem cell transplantations | ||
| 653 | _aanimal models | ||
| 653 | _aexperimental therapies | ||
| 653 | _aaxon guidance | ||
| 653 | _alysosomal storage disorders | ||
| 653 | _aneuronal circuit | ||
| 653 | _aα-galactosidase A | ||
| 653 | _aA4GALT | ||
| 653 | _aglobotriaosylceramide (Gb3) | ||
| 653 | _aglobotriaosyl-sphingosine (lysoGb3) | ||
| 653 | _apharmacological chaperone therapy | ||
| 653 | _aexosomes | ||
| 653 | _aendocytic pathways | ||
| 653 | _aneurodegenerative disease | ||
| 653 | _aParkinson disease | ||
| 653 | _alysosomal storage disorder | ||
| 653 | _aviral vectors | ||
| 653 | _anewborn screening | ||
| 653 | _avariant interpretation | ||
| 653 | _asecond tier test | ||
| 653 | _atandem mass spectrometry | ||
| 653 | _alyso-Gb3 | ||
| 653 | _adried blood spot | ||
| 653 | _aGLA gene | ||
| 653 | _aglobotriaosylsphingosine | ||
| 653 | _abiomarkers | ||
| 856 | 4 | 0 |
_awww.oapen.org _uhttps://mdpi.com/books/pdfview/book/4353 _70 _zDOAB: download the publication |
| 856 | 4 | 0 |
_awww.oapen.org _uhttps://directory.doabooks.org/handle/20.500.12854/76883 _70 _zDOAB: description of the publication |
| 999 |
_c74351 _d74351 |
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