Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches (Record no. 74351)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 04584naaaa2201213uu 4500 |
| 001 - CONTROL NUMBER | |
| control field | https://directory.doabooks.org/handle/20.500.12854/76883 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20220220075224.0 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | books978-3-0365-1966-1 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9783036519678 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9783036519661 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.3390/books978-3-0365-1966-1 |
| Terms of availability | doi |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | English |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | M |
| Source | bicssc |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Moro, Enrico |
| Relationship | edt |
| 245 10 - TITLE STATEMENT | |
| Title | Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Basel, Switzerland |
| Name of publisher, distributor, etc. | MDPI - Multidisciplinary Digital Publishing Institute |
| Date of publication, distribution, etc. | 2021 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 electronic resource (301 p.) |
| 506 0# - RESTRICTIONS ON ACCESS NOTE | |
| Terms governing access | Open Access |
| Source of term | star |
| Standardized terminology for access restriction | Unrestricted online access |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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. |
| 540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE | |
| Terms governing use and reproduction | Creative Commons |
| Use and reproduction rights | https://creativecommons.org/licenses/by/4.0/ |
| Source of term | cc |
| -- | https://creativecommons.org/licenses/by/4.0/ |
| 546 ## - LANGUAGE NOTE | |
| Language note | English |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Medicine |
| Source of heading or term | bicssc |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | mucopolysaccharidosis IIIB |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | quantitative proteomics |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | NAGLU |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomes |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Gaucher disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | bone involvement |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | enzyme replacement therapy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | substrate reduction therapy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Osteoimmunology |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | RANK/RANKL |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Osteopontin |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | MIP-1β |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | mucolipidosis II |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | sortilin |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | TGF-beta |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | cathepsin D |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Fabry disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | alpha-galactosidase A |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | endocytosis |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosome |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | IGF2R/M6P |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | clathrin |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | chloroquine |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomal diseases |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | precision medicine |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | pharmacological chaperones |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | gene therapy. |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Pompe disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomal targeting |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | autophagy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | gene therapy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | muscle |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | satellite cells |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | rhGAA |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | glycogen |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomal α-glucosidase |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | GAA biomarker |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Gaucher Disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Wnt/β-catenin |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Dkk1 |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Wnt3a |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | iPSC |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | neuronopathy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Krabbe disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Twitcher mouse |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | psychosine |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | visual system |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | visual cortex |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | astrogliosis |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | mucopolysaccharidosis type I |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Hurler syndrome |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | hematopoietic stem cell transplantations |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | animal models |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | experimental therapies |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | axon guidance |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomal storage disorders |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | neuronal circuit |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | α-galactosidase A |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | A4GALT |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | globotriaosylceramide (Gb3) |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | globotriaosyl-sphingosine (lysoGb3) |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | pharmacological chaperone therapy |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | exosomes |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | endocytic pathways |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | neurodegenerative disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Parkinson disease |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lysosomal storage disorder |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | viral vectors |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | newborn screening |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | variant interpretation |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | second tier test |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | tandem mass spectrometry |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | lyso-Gb3 |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | dried blood spot |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | GLA gene |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | globotriaosylsphingosine |
| 653 ## - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | biomarkers |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moro, Enrico |
| Relationship | oth |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Host name | www.oapen.org |
| Uniform Resource Identifier | <a href="https://mdpi.com/books/pdfview/book/4353">https://mdpi.com/books/pdfview/book/4353</a> |
| Access status | 0 |
| Public note | DOAB: download the publication |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Host name | www.oapen.org |
| Uniform Resource Identifier | <a href="https://directory.doabooks.org/handle/20.500.12854/76883">https://directory.doabooks.org/handle/20.500.12854/76883</a> |
| Access status | 0 |
| Public note | DOAB: description of the publication |
No items available.