Facetten
Zugriff
Einrichtung
Medientyp
- Text 2
Karte
Erscheinungsjahr
Autor/in
- Koch, Hans-Georg
- Santer, René
- Berry, Susan A 1
- Burton, Barbara K 1
- Edland, Steven D 1
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Sprache
- Deutsch 2
2 Einträge gefunden
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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Stadler, Sonja C
- Polanetz, Roman
- Maier, Esther M
- Heidenreich, Sylvia C
- Niederer, Birgit
- Mayerhofer, Peter U
- Lagler, Florian
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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