TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Grünert, Sarah Catharina
A1  - Schlatter, Sonja Marina
A1  - Schmitt, Robert Niklas
A1  - Gemperle-Britschgi, Corinne
A1  - Mrázová, Lenka
A1  - Balcı, Mehmet Cihan
A1  - Bischof, Felix
A1  - Çoker, Mahmut
A1  - Das, Anibh M.
A1  - Demirkol, Mübeccel
A1  - Vries, Maaike de
A1  - Gökçay, Gülden
A1  - Häberle, Johannes
A1  - Uçar, Sema Kalkan
A1  - Lotz-Havla, Amelie Sophia
A1  - Lücke, Thomas
A1  - Roland, Dominique
A1  - Rutsch, Frank
A1  - Santer, René
A1  - Schlune, Andrea
A1  - Staufner, Christian
A1  - Schwab, Karl Otfried
A1  - Mitchell, Grant A.
A1  - Sass, Jörn Oliver
T1  - 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
JF  - Molecular Genetics and Metabolism
KW  - Enzyme activity
KW  - Leucine degradation
KW  - Fatty acid metabolism
KW  - Ketogenesis
KW  - Organic aciduria
KW  - Ketone body synthesis
SN  - 1096-7192
SS  - 1096-7192
U6  - https://doi.org/10.1016/j.ymgme.2017.05.014
DO  - https://doi.org/10.1016/j.ymgme.2017.05.014
PM  - 28583327
VL  - 121
IS  - 3
SP  - 206
EP  - 215
PB  - Elsevier
ER  -