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- Santer, René
- Sass, Jörn Oliver
- Berry, Susan A 1
- Burton, Barbara K 1
- Edland, Steven D 1
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Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
2012 - Forschungsinformationssystem des UKE -
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