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Autor:
Esther M. Maier, Rüdiger von Kries, S. Arenz, Hans-Beat Hadorn, Joachim Baumkötter, Ina Knerr, Wulf Röschinger, Bernhard Liebl, Adelbert A. Roscher, Uta Nennstiel-Ratzel
Publikováno v:
Molecular Genetics and Metabolism. 85:157-159
The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrosp