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Fukao, T, Boneh, A, Aoki, Y, Kondo, N.
A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene.
Molecular Genetics and Metabolism
94(4)
:
417 -421
2008
view publication
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Coman, D, Yaplito-Lee, J, Boneh, A.
New indications and controversies in arginine therapy.
Clinical Nutrition
27(4)
:
489 -496
2008
view publication
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Boneh, A, Beauchamp, M, Humphrey, M, Watkins, J, Peters, H, Yaplito-Lee, J.
Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome.
Molecular Genetics and Metabolism
94(3)
:
287 -291
2008
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Pagliarini, DJ, Calvo, SE, Chang, B, Sheth, SA, Vafai, SB, Ong, S-E, Walford, GA, Sugiana, C, Boneh, A, Chen, WK, et al.
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology.
Cell
134(1)
:
112 -123
2008
view publication
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Boneh, A, Allan, S, Mendelson, D, Spriggs, M, Gillam, LH, Korman, SH.
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.
Molecular Genetics and Metabolism
94(2)
:
143 -147
2008
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