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2 results 1
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

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Willemsen, Michèl A. ; Verbeek, Marcel M. ; Kamsteeg, Erik-Jan ; de Rijk-van Andel, Johanneke F. ; Aeby, Alec ; Blau, Nenad ; Burlina, Alberto ; Donati, Maria A. ; Geurtz, Ben ; Grattan-Smith, Padraic J. ; Haeussler, Martin ; Hoffmann, Georg F. ; Jung, Hans ; de Klerk, Johannis B. ; van der Knaap, Marjo S. ; Kok, Fernando ; Leuzzi, Vincenzo ; de Lonlay, Pascale ; Megarbane, Andre ; Monaghan, Hugh ; Renier, Willy O. ; Rondot, Pierre ; Ryan, Monique M. ; Seeger, Jürgen ; Smeitink, Jan A. ; Steenbergen-Spanjers, Gerry C. ; Wassmer, Evangeline ; Weschke, Bernhard ; Wijburg, Frits A. ; Wilcken, Bridget ; Zafeiriou, Dimitrios I. ; Wevers, Ron A.

In: Brain, 2010, vol. 133, no. 6, p. 1810-1822

2 results 1