|
2017 Book Chapter COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritisBursle, Carolyn, Narendra, Anna, Chuk, Raymond, Cardinal, John, Justo, Rob, Lewis, Bruce and Coman, David (2017). COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis. JIMD Reports. (pp. 105-109) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Heidelberg: Springer. doi: 10.1007/8904_2016_13 |
|
2017 Book Chapter DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansionBursle, Carolyn, Brown, Dominique, Cardinal, John, Connor, Frances, Calvert, Sophie and Coman, David (2017). DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansion. JIMD Reports. (pp. 27-32) Berlin, Germany: Springer. doi: 10.1007/8904_2016_7 |
|
2016 Book Chapter Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature reviewHatch, J., Coman, D., Clayton, P., Mills, P., Calvert, S., Webster, R. I. and Riney, K. (2016). Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. JIMD Reports. (pp. 91-97) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Germany: Springer. doi: 10.1007/8904_2015_482 |
|
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 |
|
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 |
|
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 |
