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- Berry, Susan A
- Alawi, Malik 1
- Borck, Guntram 1
- Burton, Barbara K 1
- Edland, Steven D 1
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Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
- Kortüm, Fanny
- Jamra, Rami Abou
- Alawi, Malik
- Berry, Susan A
- Borck, Guntram
- Helbig, Katherine L
- Tang, Sha
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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