Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar p...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Karger Publishers
2021-06-01
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| Σειρά: | Case Reports in Neurology |
| Θέματα: | |
| Διαθέσιμο Online: | https://www.karger.com/Article/FullText/515805 |
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