Journal article

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria

Maureen Evans, Brage S Andresen, Judy Nation, Avihu Boneh

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2016


Awarded by Villum Fonden

Funding Acknowledgements

We are grateful to the patients and their parents for their enthusiastic participation in the study, and to Drs Peters and Lee, and the many metabolic fellows and dietitians who participated in managing our patients through the years described in the paper. We thank Helle Highland Nygaard and Margrethe Kjeldsen, Research Unit for Molecular Medicine, Skejby Sygehus for expert technical assistance with the mutation analysis. Study data were collected and managed using REDCap electronic data capture tools, hosted at the Murdoch Childrens Research Institute, Melbourne, Australia and supported by the Australian Communities Foundation, the S. Renton Bequest. This work was supported by the Victorian Government's Operational Infrastructure Support Program.