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Medientyp
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Autor/in
- Ensenauer, Regina
- Santer, René
- Berry, Susan A 1
- Blessing, Holger 1
- Burton, Barbara K 1
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2 Einträge gefunden
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Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
- Mütze, Ulrike
- Henze, Lucy
- Gleich, Florian
- Lindner, Martin
- Grünert, Sarah C
- Spiekerkoetter, Ute
- Santer, René
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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
- Ensenauer, Regina
- Vockley, Jerry
- Willard, Jan-Marie
- Huey, Joseph C
- Sass, Jörn Oliver
- Edland, Steven D
- Burton, Barbara K