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2015 Conference Publication Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measuresLewis, Fiona M., Knueppfer, Christina and Coman, David J. (2015). Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measures. Federation of European Societies of Neuropsychology, Tampere, Finland, 9-11 September 2015. doi: 10.13140/RG.2.1.3218.9923 |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, Erin F., McGill, Michael, Koorts, P. J., Coman, David and Conwell, Louise S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia, October 2015. |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, E. F., McGill, M., Koorts, P. J., Coman, D. and Conwell, L. S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015. |
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2015 Book Chapter Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?Grover, Z., Lewindon, P., Clousten, A., Shaag, A., Elpeleg, O. and Coman, D. (2015). Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?. JIMD Reports, Volume 21. (pp. 109-113) edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman and Verena Peters. Berlin, Germany: Springer Berlin Heidelberg. doi: 10.1007/8904_2014_402 |
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2014 Journal Article Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical featureMohammad, Shekeeb S., Coman, David and Calvert, Sophie (2014). Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature. Journal of Paediatrics and Child Health, 50 (12), 1025-1026. doi: 10.1111/jpc.12613 |
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2014 Journal Article Pre-linguistic communication skill development in an infant with a diagnosis of galactosemiaLewis, Fiona M., Coman, David J., Kilcoyne, Sarah, Murdoch, Bruce E. and Syrmis, Maryanne (2014). Pre-linguistic communication skill development in an infant with a diagnosis of galactosemia. Developmental Neurorehabilitation, 17 (5), 291-297. doi: 10.3109/17518423.2012.753479 |
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2014 Journal Article Early markers of vulnerable language skill development in galactosaemiaLewis, Fiona M., Coman, David J. and Syrnis, Maryanne (2014). Early markers of vulnerable language skill development in galactosaemia. Early Child Development and Care, 184 (12), 1787-1799. doi: 10.1080/03004430.2013.878712 |
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2014 Journal Article Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemiaLewis, Fiona M., DeJonge, Shannon M. and Coman, David J. (2014). Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia. Early Child Development and Care, 184 (11), 1636-1647. doi: 10.1080/03004430.2013.871275 |
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2014 Journal Article Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeWilson, Gabrielle R., Sunley, Jasmine, Smith, Katherine R., Pope, Kate, Bromhead, Catherine J., Fitzpatrick, Elizabeth, Di Rocco, Maja, Van Steensel, Maurice, Coman, David J., Leventer, Richard J., Delatycki, Martin B., Amor, David J., Bahlo, Melanie and Lockhart, Paul J. (2014). Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. European Journal of Human Genetics, 22 (6), 741-747. doi: 10.1038/ejhg.2013.229 |
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2014 Book Chapter Impact of Impaired Maternal Vitamin A Status on Infant EyesComan, David and Gole, Glen (2014). Impact of Impaired Maternal Vitamin A Status on Infant Eyes. Handbook of nutrition, diet and the eye. (pp. 377-382) edited by Victor R. Preedy. Burlington, MA United States: Elsevier Science. doi: 10.1016/B978-0-12-401717-7.00038-1 |
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2013 Journal Article Charting a seven-year trajectory of language outcomes for a child with galactosemiaLewis, Fiona M., Coman, David J., Syrmis, Maryann, Kilcoyne, Sarah and Murdoch, Bruce E. (2013). Charting a seven-year trajectory of language outcomes for a child with galactosemia. Journal of Developmental and Behavioral Pediatrics, 34 (6), 414-418. doi: 10.1097/DBP.0b013e31829a7be1 |
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2013 Journal Article Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scoresRajanayagam, Jeremy, Coman, David, Cartwright, David and Lewindon, Peter J. (2013). Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores. Pediatric Transplantation, 17 (4), 362-368. doi: 10.1111/petr.12083 |
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2013 Book Chapter Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four casesLewis, Fiona M., Coman, David J., Syrmis, Maryanne, Kilcoyne, Sarah and Murdoch, Bruce E. (2013). Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases. JIMD reports: case and research reports. (pp. 45-52) edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava and Verena Peters. Dordrecht, Netherlands: Springer. doi: 10.1007/8904_2012_200 |
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2013 Journal Article Fumarase deficiency in dichorionic diamniotic twinsTregoning, S., Salter, W., Thorburn, D.R., Durkie, M., Panayi, M., Wu, J.Y., Easterbrook, A. and Coman, D.J. (2013). Fumarase deficiency in dichorionic diamniotic twins. Twin Research and Human Genetics, 16 (6), 1117-1120. doi: 10.1017/thg.2013.72 |
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2012 Journal Article Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemiaLewis, Fiona M., Coman, David J., Syrmis, Maryanne, Kilcoyne, Sarah and Murdoch, Bruce E. (2012). Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia. Early Child Development and Care, 183 (12), 1747-1757. doi: 10.1080/03004430.2012.751101 |
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2012 Journal Article IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical GalactosaemiaCoss, K.P., Byrne, J.C., Coman, D.J., Adamczyk, B., Abrahams, J.L., Saldova, R., Brown, A.Y., Walsh, O., Hendroff, U., Carolan, C., Rudd, P.M. and Treacy, E.P. (2012). IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Molecular Genetics and Metabolism, 105 (2), 1-9. doi: 10.1016/j.ymgme.2011.10.018 |
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2012 Journal Article Extended newborn screening: An update for the general paediatricianComan, David and Bhattacharya, Kaustuv (2012). Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48 (2), E68-E72. doi: 10.1111/j.1440-1754.2011.02199.x |
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2012 Conference Publication Early communicative skills in galactosaemiaLewis, F. M., Coman, D. J., Kilcoyne, S., Syrmis, M. and Murdoch, B. E. (2012). Early communicative skills in galactosaemia. Developmental Neurorehabilitation Conference, Jasper, Canada, 15-16 December 2012. |
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2011 Journal Article Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physiciansComan, David J., Hayes, Ian M, Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed and Delatycki, Martin B (2011). Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. Journal of Inherited Metabolic Disease, 1, 9-15. doi: 10.1007/8904_2011_9 |
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2011 Conference Publication The emergence and development of language in infants and children with a diagnosis of galactosaemiaComan, David J., Lewis, Fiona M., Murdoch, Bruce E. and Syrmis, Maryann (2011). The emergence and development of language in infants and children with a diagnosis of galactosaemia. 3rd Annual Australasian Clinical Metabolic Meeting, Brisbane, QLD, Australia Australia, 18-19 March 2011. |
