A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

Regina Ensenauer, Jerry Vockley, Jan Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern

Research output: Contribution to journal › Article › peer-review

133 Scopus citations

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