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Number of items: 3.

Grünert, Sarah Catharina; Schmitt, Robert Niklas; Schlatter, Sonja Marina; Gemperle-Britschgi, Corinne; Balcı, Mehmet Cihan; Berg, Volker; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; Derks, Terry G.J; Gökçay, Gülden; Uçar, Sema Kalkan; Konstantopoulou, Vassiliki; Korenke, G Christoph; Lotz-Havla, Amelie Sophia; Schlune, Andrea; Staufner, Christian; Tran, Christel; Visser, Gepke; Schwab, Karl Otfried; Fukao, Toshiyuki; Sass, Jörn Oliver (2017). Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Molecular Genetics and Metabolism, 122(1-2):67-75.

Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A; Sass, Jörn Oliver (2017). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Molecular Genetics and Metabolism, 121(3):206-215.

Heintz, Caroline; Dobrowolski, Steven F; Andersen, Henriette Skovgaard; Demirkol, Mübeccel; Blau, Nenad; Andresen, Brage Storstein (2012). Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. Molecular Genetics and Metabolism, 106(4):403-411.

This list was generated on Mon Dec 10 03:37:43 2018 CET.