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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...

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Bibliografski detalji
Izdano u:BMJ Case Rep
Glavni autori: Abbas, Qalab, Jafri, Sidra Kaleem, Ishaque, Sidra, Rahman, Arshalooz Jamila
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2018
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Online pristup: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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