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29 results 1 2 3
Postprint
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

Postprint
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

Postprint
Consortium of Swiss Academic Libraries

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

Hu, Liyan ; Ibrahim, Khalid ; Stucki, Martin ; Frapolli, Michele ; Shahbeck, Noora ; Chaudhry, Farrukh ; Görg, Boris ; Häussinger, Dieter ; Penberthy, W. ; Ben-Omran, Tawfeg ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 6, p. 1075-1083

Postprint
Consortium of Swiss Academic Libraries

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

Huemer, M. ; Bürer, C. ; Ješina, P. ; Kožich, V. ; Landolt, M. ; 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. ; Noss, J. ; Parini, R. ; Peters, H. ; Plecko, B. ; Ramos, F. ; Schlune, A. ; Tsiakas, K. ; Zerjav Tansek, M. ; Baumgartner, M.

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 957-967

Postprint
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

Postprint
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

Postprint
Consortium of Swiss Academic Libraries

Harmonization guidelines for HLA-peptide multimer assays derived from results of a large scale international proficiency panel of the Cancer Vaccine Consortium

Britten, Cedrik ; Janetzki, Sylvia ; Ben-Porat, Leah ; Clay, Timothy ; Kalos, Michael ; Maecker, Holden ; Odunsi, Kunle ; Pride, Michael ; Old, Lloyd ; Hoos, Axel ; Romero, Pedro

In: Cancer Immunology, Immunotherapy, 2009, vol. 58, no. 10, p. 1701-1713

Postprint
Consortium of Swiss Academic Libraries

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

Rimella-Le-Huu, A. ; Henry, H. ; Kern, I. ; Hanquinet, S. ; Roulet-Perez, E. ; Newman, C. ; Superti-Furga, A. ; Bonafé, L. ; Ballhausen, D.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, p. 381-386

Postprint
Consortium of Swiss Academic Libraries

Postmortem chemistry update part I

Palmiere, Cristian ; Mangin, Patrice

In: International Journal of Legal Medicine, 2012, vol. 126, no. 2, p. 187-198

Postprint
Consortium of Swiss Academic Libraries

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

Fowler, B. ; Burlina, A. ; Kožich, V. ; Vianey-Saban, C.

In: Journal of Inherited Metabolic Disease, 2009, vol. 32, no. 1, p. 127-127

29 results 1 2 3