A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

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  2. Dr Langping He
  3. Professor Robert Taylor
Author(s)Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y
Publication type Article
JournalHuman Mutation
Year2017
Volume
Issue
PagesEpub ahead of print
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley and Sons Inc.
URLhttps://doi.org/10.1002/humu.23345
DOI10.1002/humu.23345
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