Suchergebnisse - RERO DOC

Consortium of Swiss Academic Libraries

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Huemer, Martina ; Kožich, Viktor ; Rinaldo, Piero ; Baumgartner, Matthias ; Merinero, Begoña ; Pasquini, Elisabetta ; Ribes, Antonia ; Blom, Henk

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 6, p. 1007-1019

Consortium of Swiss Academic Libraries

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Consortium of Swiss Academic Libraries

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias ; Deodato, Federica ; Ballhausen, Diana ; Boneh, Avihu ; Burlina, Alberto ; Cerone, Roberto ; Garcia, Paula ; Gökçay, Gülden ; Grünewald, Stephanie ; Häberle, Johannes ; Jaeken, Jaak ; Ketteridge, David ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Martins, Esmeralda ; Schwab, Karl ; Gruenert, Sarah ; Schwahn, Bernd ; Sztriha, László ; Tomaske, Maren ; Trefz, Friedrich ; Vilarinho, Laura ; Rosenblatt, David ; Fowler, Brian ; Dionisi-Vici, Carlo

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 831-840

Consortium of Swiss Academic Libraries

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Rüegger, Corinne ; Lindner, Martin ; Ballhausen, Diana ; Baumgartner, Matthias ; Beblo, Skadi ; Das, Anibh ; Gautschi, Matthias ; Glahn, Esther ; Grünert, Sarah ; Hennermann, Julia ; Hochuli, Michel ; Huemer, Martina ; Karall, Daniela ; Kölker, Stefan ; Lachmann, Robin ; Lotz-Havla, Amelie ; Möslinger, Dorothea ; Nuoffer, Jean-Marc ; Plecko, Barbara ; Rutsch, Frank ; Santer, René ; Spiekerkoetter, Ute ; Staufner, Christian ; Stricker, Tamar ; Wijburg, Frits ; Williams, Monique ; Burgard, Peter ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 1, p. 21-30

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