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

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Document Type:Article
Language:English
Author:Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune, Christian Staufner, Karl Otfried Schwab, Grant A. Mitchell, Jörn Oliver Sass
Parent Title (English):Mol Genet Metab. (Molecular Genetics and Metabolism)
Volume:121
Issue:3
First Page:206
Last Page:215
ISSN:1096-7192
DOI:https://doi.org/10.1016/j.ymgme.2017.05.014
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=28583327
Publisher:Elsevier
Date of first publication:2017/05/22
Tag:Enzyme activity; Fatty acid metabolism; Ketogenesis; Ketone body synthesis; Leucine degradation; Organic aciduria
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie
Entry in this database:2017/05/27