Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
Lysosomal 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 optio...
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| Year of Publication: | 2021 |
| Language: | English |
| Physical Description: | 1 electronic resource (301 p.) |
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| 100 | 1 | |a Moro, Enrico |4 edt | |
| 245 | 1 | 0 | |a Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| 246 | |a Lysosomal Storage Disorders | ||
| 260 | |a Basel, Switzerland |b MDPI - Multidisciplinary Digital Publishing Institute |c 2021 | ||
| 300 | |a 1 electronic resource (301 p.) | ||
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| 520 | |a Lysosomal 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. | ||
| 546 | |a English | ||
| 650 | 7 | |a Medicine |2 bicssc | |
| 653 | |a mucopolysaccharidosis IIIB | ||
| 653 | |a quantitative proteomics | ||
| 653 | |a NAGLU | ||
| 653 | |a lysosomes | ||
| 653 | |a Gaucher disease | ||
| 653 | |a bone involvement | ||
| 653 | |a enzyme replacement therapy | ||
| 653 | |a substrate reduction therapy | ||
| 653 | |a Osteoimmunology | ||
| 653 | |a RANK/RANKL | ||
| 653 | |a Osteopontin | ||
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| 653 | |a Fabry disease | ||
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| 653 | |a IGF2R/M6P | ||
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| 653 | |a astrogliosis | ||
| 653 | |a mucopolysaccharidosis type I | ||
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| 653 | |a hematopoietic stem cell transplantations | ||
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| 653 | |a neuronal circuit | ||
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| 653 | |a globotriaosyl-sphingosine (lysoGb3) | ||
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| 653 | |a Parkinson disease | ||
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| 653 | |a newborn screening | ||
| 653 | |a variant interpretation | ||
| 653 | |a second tier test | ||
| 653 | |a tandem mass spectrometry | ||
| 653 | |a lyso-Gb3 | ||
| 653 | |a dried blood spot | ||
| 653 | |a GLA gene | ||
| 653 | |a globotriaosylsphingosine | ||
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| 700 | 1 | |a Moro, Enrico |4 oth | |
| 906 | |a BOOK | ||
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