Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia
Item, C.B., Schanzer, A., Metz, T., Greber-Platzer, S., Lischka, J.
Published in Clinical biochemistry (01.04.2019)
Published in Clinical biochemistry (01.04.2019)
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Characterization of seven novel mutations in seven patients with GAMT deficiency
Item, C.B., Mercimek-Mahmutoglu, S., Battini, R., Edlinger-Horvat, C., Stromberger, C., Bodamer, O., Mühl, A., Vilaseca, M.A., Korall, H., Stöckler-Ipsiroglu, S.
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency
Vodopiutz, J, Item, C B, Häusler, M, Korall, H, Bodamer, O A
Published in Journal of child neurology (01.06.2007)
Published in Journal of child neurology (01.06.2007)
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Journal Article
Characterization of seven novel mutations in seven patients with GAMT deficiency: MUTATIONS IN BRIEF
Item, C.B., Mercimek-Mahmutoglu, S., Battini, R., Edlinger-Horvat, C., Stromberger, C., Bodamer, O., Mühl, A., Vilaseca, M.A., Korall, H., Stöckler-Ipsiroglu, S.
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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