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Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a nov...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMJ Case Rep |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6040568/ https://ncbi.nlm.nih.gov/pubmed/29950502 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-224958 |
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