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Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Abstract:

Brown-Vialetto-Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter. We report the case of a female who presented at 22 months with acute-onset stridor and generalized muscle weakness, in whom a genetic diagnosis of BVVLS was made, and whose symptoms improved on therapy with high-dose riboflavin. She had previously been developing normally and was able to walk at 11 months, then developed progres...

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Publication status:
Published

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Authors


Jayapal, S More by this author
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Journal:
Developmental medicine and child neurology
Volume:
54
Issue:
2
Pages:
187-189
Publication date:
2012-02-05
DOI:
EISSN:
1469-8749
ISSN:
0012-1622
URN:
uuid:324ee95e-03bf-4efa-9d61-2eb84342223d
Source identifiers:
206007
Local pid:
pubs:206007

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