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Avihu Boneh

Metabolic Service

Genetic Health Services Victoria

Murdoch Children's Research Institute

Royal Children's Hospital



Name/email consistency: high



  • Metabolic Service, Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Australia. 2005 - 2008
  • Metabolic Service and Newborn Screening Laboratory, Genetic Health Services Victoria, Melbourne, Australia. 2006
  • Department of Human Genetics, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel. 2005


  1. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Boneh, A., Allan, S., Mendelson, D., Spriggs, M., Gillam, L.H., Korman, S.H. Mol. Genet. Metab. (2008) [Pubmed]
  2. Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Boneh, A., Beauchamp, M., Humphrey, M., Watkins, J., Peters, H., Yaplito-Lee, J. Mol. Genet. Metab. (2008) [Pubmed]
  3. VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Boneh, A., Andresen, B.S., Gregersen, N., Ibrahim, M., Tzanakos, N., Peters, H., Yaplito-Lee, J., Pitt, J.J. Mol. Genet. Metab. (2006) [Pubmed]
  4. Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms. Boneh, A. Cell. Mol. Life Sci. (2006) [Pubmed]
  5. Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria. Boneh, A., Francis, D.E., Humphrey, M., Upton, H.J., Peters, H.L. J. Paediatr. Child. Health (2006) [Pubmed]
  6. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Boneh, A., Korman, S.H., Sato, K., Kanno, J., Matsubara, Y., Lerer, I., Ben-Neriah, Z., Kure, S. J. Hum. Genet. (2005) [Pubmed]
  7. Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult. Boneh, A., Baumgartner, M., Hayman, M., Peters, H. J. Inherit. Metab. Dis. (2005) [Pubmed]
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