Avihu Boneh

Dr

20032018
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Research Output 2003 2018

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Article
2017

The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism

Evans, M., Truby, H. & Boneh, A., Sep 2017, In : Journal of Pediatrics. 188, p. 163-172 10 p.

Research output: Contribution to journalArticleResearchpeer-review

The relationship between dietary intake, growth and body composition in Phenylketonuria

Evans, M., Truby, H. & Boneh, A., Sep 2017, In : Molecular Genetics and Metabolism. 122, 1-2, p. 36-42 7 p.

Research output: Contribution to journalArticleResearchpeer-review

2016

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria

Evans, M., Andresen, B. S., Nation, J. & Boneh, A., 1 Aug 2016, In : Molecular Genetics and Metabolism. 118, 4, p. 282-287 6 p.

Research output: Contribution to journalArticleResearchpeer-review

2014

New ways of defining protein and energy relationships in inborn errors of metabolism

Humphrey, M. S., Truby, H. & Boneh, A., 2014, In : Molecular Genetics and Metabolism. 112, 4, p. 247 - 258 12 p.

Research output: Contribution to journalArticleResearchpeer-review

2013

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Fukao, T., Aoyama, Y., Murase, K., Hori, T., Harijan, R. K., Wierenga, R. K., Boneh, A. & Kondo, N., Sep 2013, In : Molecular Genetics and Metabolism. 110, 1-2, p. 184-187 4 p.

Research output: Contribution to journalArticleResearchpeer-review

Histopathological findings in livers of patients with urea cycle disorders

Yaplito-Lee, J., Chow, C. W. & Boneh, A., Mar 2013, In : Molecular Genetics and Metabolism. 108, 3, p. 161-165 5 p.

Research output: Contribution to journalArticleResearchpeer-review

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Lim, S. C., Friemel, M., Marum, J. E., Tucker, E. J., Bruno, D. L., Riley, L. G., Christodoulou, J., Kirk, E. P., Boneh, A., DeGennaro, C. M., Springer, M., Mootha, V. K., Rouault, T. A., Leimkühler, S., Thorburn, D. R. & Compton, A. G., Nov 2013, In : Human Molecular Genetics. 22, 22, p. 4460-4473 14 p., ddt295.

Research output: Contribution to journalArticleResearchpeer-review

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

Abacan, M. & Boneh, A., Aug 2013, In : Molecular Genetics and Metabolism. 109, 4, p. 397-401 5 p.

Research output: Contribution to journalArticleResearchpeer-review

2012

Early clinical manifestations and eating patterns in patients with urea cycle disorders

Gardeitchik, T., Humphrey, M., Nation, J. & Boneh, A., Aug 2012, In : Journal of Pediatrics. 161, 2, p. 328-332 5 p.

Research output: Contribution to journalArticleResearchpeer-review

2011

Diagnosis and management of glutaric aciduria type I - Revised recommendations

Kölker, S., Christensen, E., Leonard, J. V., Greenberg, C. R., Boneh, A., Burlina, A. B., Burlina, A. P., Dixon, M., Duran, M., García Cazorla, A., Goodman, S. I., Koeller, D. M., Kyllerman, M., Mühlhausen, C., Müller, E., Okun, J. G., Wilcken, B., Hoffmann, G. F. & Burgard, P., Jun 2011, In : Journal of Inherited Metabolic Disease. 34, 3, p. 677-694 18 p.

Research output: Contribution to journalArticleOtherpeer-review

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2007

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

Anderson, P. J., Wood, S. J., Francis, D. E., Coleman, L., Anderson, V. & Boneh, A., 2007, In : Developmental Neuropsychology. 32, 2, p. 645-668 24 p.

Research output: Contribution to journalArticleResearchpeer-review

2005

Body composition in young adults with inborn errors of protein metabolism - a pilot study

Wilcox, G., Strauss, B. J. G., Francis, D. E. M., Upton, H. & Boneh, A., 2005, In : Journal of Inherited Metabolic Disease. 28, 5, p. 613 - 626 14 p.

Research output: Contribution to journalArticleResearchpeer-review

2004

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H. M., Ryan, M. T. & Thorburn, D. R., 1 Jan 2004, In : Journal of Clinical Investigation. 114, 6, p. 837-845 9 p.

Research output: Contribution to journalArticleResearchpeer-review

Neuropsychological functioning in children with early-treated phenylketonuria: Impact of white matter abnormalities

Anderson, P. J., Wood, S. J., Francis, D. E., Coleman, L., Warwick, L., Casanelia, S., Anderson, V. A. & Boneh, A., Apr 2004, In : Developmental Medicine and Child Neurology. 46, 4, p. 230-238 9 p.

Research output: Contribution to journalArticleResearchpeer-review

2003

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

Kirby, D. M., Boneh, A., Chow, C. W., Ohtake, A., Ryan, M. T., Thyagarajan, D. & Thorburn, D. R., 1 Oct 2003, In : Annals of Neurology. 54, 4, p. 473-478 6 p.

Research output: Contribution to journalArticleResearchpeer-review