Boneh, A. Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism. Journal of Inherited Metabolic Disease 38(4) : 729 -740 2015
view publication
Pitt, JJ, Peters, H, Boneh, A, Yaplito‐Lee, J, Wieser, S, Hinderhofer, K, Johnson, D, Zschocke, J. Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations. Journal of Inherited Metabolic Disease 38(3) : 459 -466 2015
view publication
Tal, G, Pitt, J, Morrisy, S, Tzanakos, N, Boneh, A. An audit of newborn screening procedure: Impact on infants presenting clinically before results are available. Molecular Genetics and Metabolism 114(3) : 403 -408 2015
view publication
Brown, A, Crowe, L, Andresen, BS, Anderson, V, Boneh, A. Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. Molecular Genetics and Metabolism 113(4) : 278 -282 2014
view publication
Nation, J, Humphrey, M, MacKay, M, Boneh, A. Linear Growth of Children on a Ketogenic Diet. Journal of Child Neurology 29(11) : 1496 -1501 2014
view publication