ORCID as entered in ROS

Select Publications
2015, 'Erratum: CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy(Genetics in Medicine(2015)17:7)', Genetics in Medicine, 17, pp. 596, http://dx.doi.org/10.1038/gim.2015.57
,2015, 'Investigation and management of the hepatic glycogen storage diseases', TRANSLATIONAL PEDIATRICS, 4, pp. 240 - 248, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.07
,2015, 'A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: A randomized double-blind cross-over study', Orphanet Journal of Rare Diseases, 10, http://dx.doi.org/10.1186/s13023-015-0229-6
,2015, 'Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)', Molecular Genetics and Metabolism, 115, pp. 41 - 47, http://dx.doi.org/10.1016/j.ymgme.2015.03.005
,2014, 'Expanded newborn screening in New South Wales: missed cases', Journal of Inherited Metabolic Disease, 37, pp. 881 - 887, http://dx.doi.org/10.1007/s10545-014-9727-2
,2014, 'The evolution of blood-spot newborn screening', TRANSLATIONAL PEDIATRICS, 3, pp. 63 - 70, http://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08
,2014, 'Overcoming the barriers to diagnosis of Morquio A syndrome', Orphanet Journal of Rare Diseases, 9, pp. 192, http://dx.doi.org/10.1186/s13023-014-0192-7
,2014, 'Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5', Brain, 137, pp. 366 - 379, http://dx.doi.org/10.1093/brain/awt328
,2012, 'Extended newborn screening: An update for the general paediatrician', Journal of Paediatrics and Child Health, 48, pp. E68 - E72, http://dx.doi.org/10.1111/j.1440-1754.2011.02199.x
,2011, 'Dietary dilemmas in the management of glycogen storage disease type I', Journal of Inherited Metabolic Disease, 34, pp. 621 - 629, http://dx.doi.org/10.1007/s10545-011-9322-8
,2011, 'Effet d’un amidon de maïs modifié sur la tolérance au jeûne des patients adultes atteints de glycogénose de type 1', La Revue de Médecine Interne, 32, pp. S146 - S146, http://dx.doi.org/10.1016/j.revmed.2011.03.237
,2009, 'Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency', Journal of Inherited Metabolic Disease, 32, pp. S241 - S251, http://dx.doi.org/10.1007/s10545-009-1180-2
,2008, 'Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib', American Journal of Clinical Nutrition, 88, pp. 1272 - 1276, http://dx.doi.org/10.3945/ajcn.2008.26352
,2007, 'A novel starch for the treatment of glycogen storage diseases', Journal of Inherited Metabolic Disease, 30, pp. 350 - 357, http://dx.doi.org/10.1007/s10545-007-0479-0
,2006, 'Newborn screening may fail to identify intermediate forms of maple syrup urine disease.', Journal of Inherited Metabolic Disease, 29, pp. 586, http://dx.doi.org/10.1007/s10545-006-0366-0
,2004, 'The benefits of liver transplantation in glycogenosis type Ib', Journal of Inherited Metabolic Disease, 27, pp. 539 - 540, http://dx.doi.org/10.1023/B:BOLI.0000037400.49488.20
,2003, 'Diagnosis and management of mitochondrial respiratory chain disorders', Current Paediatrics, 13, pp. 536 - 542, http://dx.doi.org/10.1016/j.cupe.2003.08.006
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