Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

Austin A Larson; Shanti Balasubramaniam; John Christodoulou; Lindsay C Burrage; Ronit Marom; Brett H Graham; George A Diaz; Emma Glamuzina; Natalie Hauser; Bryce Heese; Gabriella Horvath; Andre Mattman; Clara van Karnebeek; S Lane Rutledge; Amy Williamson; Lissette Estrella; Johan KL Van Hove; James D Weisfeld-Adams

Journal article

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

Austin A Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C Burrage, Ronit Marom, Brett H Graham, George A Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S Lane Rutledge, Amy Williamson, Lissette Estrella, Johan KL Van Hove, James D Weisfeld-Adams

Mitochondrion | ELSEVIER SCI LTD | Published : 2019

DOI: 10.1016/j.mito.2018.01.001

University of Melbourne Researchers

John Christodoulou Author Paediatrics Royal Children's Hospital

Grants

Awarded by Canadian Institutes for Health Research

Funding Acknowledgements

We gratefully acknowledge the participation of patients with MT-ATP6 mutations and their families. British Columbia Children's Hospital Foundation and Canadian Institutes for Health Research #301221 assisted in funding investigation of Patient 1. CVK is supported by the Michael Smith Foundation for Health Research. LCB is supported by NIHK08DK106453. RM is supported by the osteogenesis imperfecta Michael Geisman Fellowship. BHG is supported by NIHR01GM098387 and R21GM110190. GAD and JWA are supported by NIHU54HD061221. AL was supported by NIHU54NS078059.