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)