| Autor: |
Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Frontiers in Neurology, Vol 12 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2295 |
| DOI: |
10.3389/fneur.2021.758899 |
| Popis: |
Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations of their structure and function in these disorders impair often fundamental processes in cells, resulting in severe clinical image. This study aimed to provide a systematic review of GPIBD cases reports published in English-language literature.Methods: The browsing of open-access databases (PubMed, PubMed Central. and Medline) was conducted, followed by statistical analysis of gathered information concerning neurological symptomatology. The inclusion criteria were: studies on humans, age at onset ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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