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Number of items: 5.

Keller, R; Chrastina, P; Pavlíková, M; Gouveia, S; Ribes, A; Kölker, S; Blom, H J; Baumgartner, M R; Bártl, J; Dionisi Vici, C; Gleich, F; Morris, A A; Kožich, V; Huemer, M; Barić, I; Ben-Omran, T; Blasco-Alonso, J; Bueno Delgado, M A; Carducci, C; Cassanello, M; Cerone, R; Couce, M L; Crushell, E; Delgado Pecellin, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; et al (2018). Newborn screening for homocystinurias: recent recommendations versus current practice. Journal of Inherited Metabolic Disease:Epub ahead of print.

Löscher, W N; Huemer, M; Stulnig, T M; Simschitz, P; Iglseder, S; Eggers, C; Moser, H; Möslinger, D; Freilinger, M; Lagler, F; Grinzinger, S; Reichhardt, M; Bittner, R E; Schmidt, W M; Lex, U; Brunner-Krainz, M; Quasthoff, S; Wanschitz, J V (2018). Pompe disease in Austria: clinical, genetic and epidemiological aspects. Journal of Neurology, (265):159-164.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Huemer, M; Simma, B; Mayr, D; Möslinger, D; Mühl, A; Schmid, I; Ulmer, H; Bodamer, O A (2012). Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). Journal of Inherited Metabolic Disease, 35(5):817-821.

Peckl-Schmid, D; Wolkerstorfer, S; Königsberger, S; Achatz-Straussberger, G; Feichtner, S; Schwaiger, E; Zaborsky, N; Huemer, M; Gratz, I K; Schibli, R; Lamers, M; Crameri, R; Moser, K; Luger, E O; Achatz, G (2010). HAX1 deficiency: Impact on lymphopoiesis and B-cell development. European Journal of Immunology, 40(11):3161-3172.

This list was generated on Thu May 23 15:36:00 2019 CEST.