| Autor: |
Hassan Osman Alhassan, Elsaid, Håkon, Tjeldnes, Mariell, Rivedal, Camille, Serre, Øystein, Eikrem, Einar, Svarstad, Camilla, Tøndel, Hans-Peter, Marti, Jessica, Furriol, Janka, Babickova |
| Rok vydání: |
2022 |
| Zdroj: |
International journal of molecular sciences. 24(1) |
| ISSN: |
1422-0067 |
| Popis: |
Fabry disease (FD) is an X-linked inborn metabolic disorder due to partial or complete lysosomal α-galactosidase A deficiency. FD is characterized by progressive renal insufficiency and cardio- and cerebrovascular involvement. Restricted access on Gb3-independent tissue injury experimental models has limited the understanding of FD pathophysiology and delayed the development of new therapies. Accumulating glycosphingolipids, mainly Gb3 and lysoGb3, are Fabry specific markers used in clinical follow up. However, recent studies suggest there is a need for additional markers to monitor FD clinical course or response to treatment. We used a |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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