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DR AVIHU BONEH



Contact Details

Organization: Paediatrics Royal Children's Hospital
Position: Honorary (Principal Fellow)
Email:

Qualifications, Honours, Fellowships and Other Awards

Qualifications

Title Institution Date Awarded Abbreviation
Doctor of Medicine Institution not known
Doctor of Philosophy University of Montreal

Government Research Classifications

Research Fields, Courses and Discipline Classifications

Socio-Economic Objective Classifications

Publications

Publications produced at the University of Melbourne and reported in the Annual Publications Collection and 'Research Report' since 2001. The Themis Publications module, released in November 2006, allows additional publications from previous institutions and publications from past years to be entered.

Publications in 2007

Journal Articles

  • Are neuropsychological impairments in children with early-treated Phenylketonuria (PKU) related to white matter abnormalities or elevated Phenylalanine levels?


    Year: 2007
    Journal: Developmental Neuropsychology
    Volume: 32
    Issue: 2
    Page numbers: 645-668
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  • Cardiac manifestations in oxidative phosphorylation disorders of childhood
    Year: 2007
    Journal: Journal of Pediatrics
    Volume: 150
    Issue: 4
    Page numbers: 407-411
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  • Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
    Year: 2007
    Journal: The Lancet
    Volume: 369
    Page numbers: 37-42
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Publications in 2006

Journal Articles

  • Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms


    Year: 2006
    Journal: Cellular and Molecular Life Sciences
    Volume: 63
    Page numbers: 1236-1248
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  • VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis


    Year: 2006
    Journal: Molecular Genetics and Metabolism
    Volume: 88
    Page numbers: 166-170
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  • A novel slc25a20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acycarnitine translocase (CACT) deficiency
    Year: 2006
    Journal: Molecular Genetics and Metabolism
    Volume: 89
    Issue: 2006
    Page numbers: 332-338
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  • Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases
    Year: 2006
    Journal: Developmental Medicine and Child Neurology
    Volume: 48
    Issue: 2
    Page numbers: 132-136
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  • Three-year audit of the hyperphenylalaninaemia / phenylketonuria spectrum in Victoria
    Year: 2006
    Journal: Journal of Paediatrics and Child Health
    Volume: 42
    Page numbers: 496-498
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Publications in 2005

Journal Articles

  • 2-Ethylhydracrylic aciduria in short/branched-chain acyl-CoA Dehydrogenase deficiency: application to diagnosis and implications for the R-Pathway of Isoleucine Oxidation
    Year: 2005
    Journal: Clinical Chemistry
    Volume: 51
    Issue: 3
    Page numbers: 610-619
    Publisher: American Association for Clinical Chemistry
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  • A single nucleotide substitution that abolishes the initiator codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
    Year: 2005
    Journal: Journal of Human Genetics
    Volume: 50
    Issue: 5
    Page numbers: 230-234
    Publisher: Springer-Verlag Tokyo(Tokyo)
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  • Body composition in young adults with inborn errors of protein metabolism - A pilot study
    Year: 2005
    Journal: Journal of Inherited Metabolic Disease
    Volume: 28
    Issue: 5
    Page numbers: 613-626
    Publisher: Kluwer Academic Publishers(Dordrecht)
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  • Methylcrotonyl-CoA carboxylase (MCC) deficency associated with severe muscle pain and physical disability in an adult.
    Year: 2005
    Journal: Journal of Inherited Metabolic Disease
    Volume: 28
    Issue: 6
    Page numbers: 1139
    Publisher: Kluwer Academic Publishers(Dordrecht)
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  • Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GMI-gangliosidosis
    Year: 2005
    Journal: Human Mutation
    Volume: 25
    Issue: 3
    Page numbers: 285-292
    Publisher: Wiley-Liss(New York)
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  • The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease
    Year: 2005
    Journal: Neuropediatrics
    Volume: 36
    Issue: 4
    Page numbers: 256-259
    Publisher: Georg Thieme Verlag(Stuttgart)
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Publications in 2004

Journal Articles

  • Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases.
    Year: 2004
    Journal: Journal of Inherited Metabolic Disease
    Volume: 27
    Issue: 4
    Page numbers: 487-498
    Publisher: Kluwer Academic Publishers(Dordrecht)
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  • Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities
    Year: 2004
    Journal: Developmental Medicine and Child Neurology
    Volume: 46
    Page numbers: 230-238
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  • The impact of galactosaemia on quality of life - a pilot study.
    Year: 2004
    Journal: Journal of Inherited Metabolic Disease
    Volume: 27
    Issue: 5
    Page numbers: 601-608
    Publisher: Kluwer Academic Publishers(Dordrecht)
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Publications in 2003

Book Chapters

  • Metabolic conditions
    Year: 2003
    Book: Paediatric Handbook
    Publisher: Blackwell Publishers(Carlton South)
    Authors(s):

Journal Articles

  • Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
    Year: 2003
    Journal: Annals of Neurology
    Volume: 54
    Page numbers: 473-478
    Publisher: Wiley-Liss(New York)
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Publications in 2002

Journal Articles

  • 3- Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing
    Year: 2002
    Journal: Journal of Inherited Metabolic Disease
    Volume: 25
    Page numbers: 83-88
    Publisher: Kluwer Academic Publishers(Dordrecht)
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  • A model for PKC involvement in the pathogenesis of inborn errors of metabolism
    Year: 2002
    Journal: Trends in Molecular Medicine
    Volume: 8
    Issue: 11
    Page numbers: 524-531
    Publisher: Elsevier Science
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  • Clinical findings and biochemical and molecular alalysis of four patients with holocarboxylase synthetase deficiency
    Year: 2002
    Journal: American Journal of Medical Genetics
    Volume: 111
    Page numbers: 10-18
    Publisher: Wiley-Liss(New York)
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  • Diagnostic criteria for respiratory chain disorders in adults and children
    Year: 2002
    Journal: Neurology
    Volume: 59
    Page numbers: 1406-1411
    Publisher: Lippincott Williams & Wilkins(Pennsylvania)
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  • How practical are recommendations for dietary control in phenylketonuria?
    Year: 2002
    Journal: The Lancet
    Volume: 360
    Page numbers: 55-57
    Publisher: Lancet(London)
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  • Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease
    Year: 2002
    Journal: American Journal of Obstetrics and Gynecology
    Volume: 187(1)
    Issue: July 2002
    Page numbers: 225-226
    Publisher: Mosby(Missouri)
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  • Mutation analysis of PEX7 in 60 probands with rhizomelic chonrodysplasia punctata and functional correlations of genotype with phenotype
    Year: 2002
    Journal: Human Mutation
    Volume: 20
    Page numbers: 284-297
    Publisher: Wiley-Liss(New York)
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  • Pamidronate treatment improves bone mineral density in children with Menkes disease
    Year: 2002
    Journal: Journal of Inherited Metabolic Disease
    Volume: 25
    Page numbers: 391-398
    Publisher: Kluwer Academic Publishers(Dordrecht)
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Publications in 2001

Book Chapters

  • Endocrinology of the newborn
    Year: 2001
    Book: Clinical paediatric endocrinology
    Publisher: Blackwell Science(Oxford)
    Authors(s):

Journal Articles

  • Book review:Inborn metabolic diseases: diagnosis and treatment
    Year: 2001
    Journal: Journal of Paediatrics and Child Health
    Volume: 37
    Issue: 3
    Page numbers: 419
    Publisher: Blackwell Science Asia(Carlton)
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  • Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma
    Year: 2001
    Journal: Journal of Paediatrics and Child Health
    Volume: 37
    Page numbers: 510-512
    Publisher: Blackwell Science Asia(Carlton)
    Author(s):