3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Gruenert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrazova, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Coker, Mahmut; Das, Anibh M.; Demirkol, Muebeccel; de Vries, Maaike; Goekcay, Gulden; Haeberle, Johannes; Ucar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Luecke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, Rene; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Joern Oliver

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Autor(en):

Gruenert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrazova, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Coker, Mahmut; Das, Anibh M.; Demirkol, Muebeccel; de Vries, Maaike; Goekcay, Gulden; Haeberle, Johannes; Ucar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Luecke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, Rene; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Joern Oliver

Tübinger Autor(en):

Bischof, Felix

Erschienen in:

Molecular Genetics and Metabolism (2017), Bd. 121, H. 3, S. 206-215

Verlagsangabe:

Academic Press Inc Elsevier Science

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ymgme.2017.05.014

ISSN:

1096-7206