Lysosomal Storage Diseases
| Autor: | Joseph Alroy DVM, DACVP, Jeremiah A. Lyons MVB, PhD, DACVP |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Journal of Inborn Errors of Metabolism and Screening, Vol 2 (2014) |
| Druh dokumentu: | article |
| ISSN: | 2326-4594 23264098 |
| DOI: | 10.1177/2326409813517663 |
| Popis: | Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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