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Korman, SH, Pitt, JJ, Boneh, A, Dweikat, I, Zater, M, Meiner, V, Gutman, A, Brivet, M.
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Molecular Genetics and Metabolism
89(4)
:
332 -338
2006
view publication
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Boneh, A, Francis, DE, Humphrey, M, Upton, HJ, Peters, HL.
Three‐year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.
Journal of Paediatrics and Child Health
42(9)
:
496 -498
2006
view publication
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Boneh, A.
Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms.
Cellular and Molecular Life Sciences
63(11)
:
1236 -1248
2006
view publication
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Boneh, A, Andresen, BS, Gregersen, N, Ibrahim, M, Tzanakos, N, Peters, H, Yaplito-Lee, J, Pitt, JJ.
VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Molecular Genetics and Metabolism
88(2)
:
166 -170
2006
view publication
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MBBS, JH, Kirby, DM, Thorburn, DR, Boneh, AV.
Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases.
Developmental Medicine & Child Neurology
48(2)
:
132 -136
2006
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