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Number of items: 6.

Rommer, Paulus S; Zschocke, Johannes; Fowler, Brian; Födinger, Manuela; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Stögmann, Elisabeth; Suess, Erhard; Baumgartner, Matthias; Auff, Eduard; Sunder-Plassmann, Gere (2017). Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency. Journal of the Neurological Sciences, 383:123-127.

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine (2015). Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet Journal of Rare Diseases, 10(21):online.

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Hu, Liyan; Pandey, Amit V; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of Biological Chemistry, 288(48):34599-34611.

Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara (2013). Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of Inherited Metabolic Disease, 36(1):7-13.

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

This list was generated on Tue Mar 19 17:49:19 2019 CET.