Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening

Por Spiekerkoetter, U., Mueller, M., Sturm, M., Hofmann, M., Schneider, D. T.
Publicado em 2012

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Por Grünert, Sarah C., Wehrle, A., Villavicencio-Lorini, P., Lausch, E., Vetter, B., Schwab, K. O., Tucci, S., Spiekerkoetter, U.
Publicado no BMC Med Genet (2015)

Citrin deficiency mimicking mitochondrial depletion syndrome

Por Grünert, S. C., Schumann, A., Freisinger, P., Rosenbaum-Fabian, S., Schmidts, M., Mueller, A. J., Beck-Wödl, S., Haack, T. B., Schneider, H., Fuchs, H., Teufel, U., Gramer, G., Hannibal, L., Spiekerkoetter, U.
Publicado no BMC Pediatr (2020)