Metabolite studies in HIBCH and ECHS1 defects: Implications for screening
Heidi Peters, Sacha Ferdinandusse, Jos P Ruiter, Ronald JA Wanders, Avihu Boneh, James Pitt
Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2015
We thank Ms Ava Mishra and Mary Eggington for the expert technical assistance, Ms Wendy Fagan and Dr David Thorburn for performing the PDHC assays, Mr Nicholas Tzanakos for the dried blood spot analysis and Prof Ron Wevers for the helpful advice. Sections of this work were supported by the Victorian Government's Operational Infrastructure Support Program.