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Journal articles
, 2020, 'Protecting the rare during a rare pandemic', Medical Journal of Australia, 213, pp. 94 - 94.e1, http://dx.doi.org/10.5694/mja2.50671
, 2020, 'The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease', Genetics in Medicine, 22, pp. 1254 - 1261, http://dx.doi.org/10.1038/s41436-020-0793-6
, 2020, 'Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency', Genetics in Medicine, 22, pp. 908 - 916, http://dx.doi.org/10.1038/s41436-019-0739-z
, 2020, 'The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders', Orphanet Journal of Rare Diseases, 15, http://dx.doi.org/10.1186/s13023-020-1316-x
, 2020, 'Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders', Brain Communications, 2, http://dx.doi.org/10.1093/braincomms/fcaa178
, 2020, 'Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio A Syndrome: A Phase 3b Study', Journal of Inborn Errors of Metabolism and Screening, 8, http://dx.doi.org/10.1590/2326-4594-JIEMS-2020-0001
, 2019, 'Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype', Proceedings of the National Academy of Sciences of the United States of America, 116, pp. 9865 - 9870, http://dx.doi.org/10.1073/pnas.1817815116
, 2019, 'International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria', Molecular Genetics and Metabolism, 127, pp. 1 - 11, http://dx.doi.org/10.1016/j.ymgme.2019.04.004
, 2018, 'Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response', Journal of Paediatrics and Child Health, 54, pp. 1255 - 1261, http://dx.doi.org/10.1111/jpc.14070
, 2017, 'Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction', Plos One, 12, pp. e0178125, http://dx.doi.org/10.1371/journal.pone.0178125
, 2017, 'Minimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndrome', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0633-1
, 2017, 'Rare case of hepatic gaucheroma in a child on enzyme replacement therapy', , 32, pp. 101 - 104, http://dx.doi.org/10.1007/8904_2016_562
, 2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014
, 2016, 'Clinical course of sly syndrome (mucopolysaccharidosis type VII)', Journal of Medical Genetics, 53, pp. 403 - 418, http://dx.doi.org/10.1136/jmedgenet-2015-103322
, 2016, 'Dietary management of the ketogenic glycogen storage diseases', Journal of Inborn Errors of Metabolism and Screening, 4, http://dx.doi.org/10.1177/2326409816661359
, 2015, 'CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy', Genetics in Medicine, 17, pp. 912 - 918, http://dx.doi.org/10.1038/gim.2015.6
, 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, '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
, 2015, 'Investigation and management of the hepatic glycogen storage diseases', Translational Pediatrics, 4, pp. 24048 - 24248, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.07
, 2015, 'Where will genetic research take us?', Translational Pediatrics, 4, pp. 31819 - 31319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09
, 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, '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
, 2014, 'The evolution of blood-spot newborn screening', Translational Pediatrics, 3, pp. 630 - 670, http://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08
, 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, 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
Conference Papers
, 2020, 'Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 56 - 58
, 2018, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: A case series', in Molecular Genetics and Metabolism, Elsevier, pp. s127 - s128, http://dx.doi.org/10.1016/j.ymgme.2017.12.348
, 2016, 'PERIPHERAL AIRWAY FUNCTION IN CHILDREN WITH LYSOSOMAL STORAGE DISORDERS', in RESPIROLOGY, WILEY-BLACKWELL, pp. 182 - 182, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000373102400408&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2012, 'DOES HYPERGLYCAEMIA CONTRIBUTE TO CIRRHOSIS IN GLYCOGEN STORAGE DISEASE DUE TO PHKG2 DEFICIENCY?', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S81 - S81, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100280&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2012, 'SPASTIC DIPLEGIA IN A NOVEL FORM OF NON-KETOTIC HYPERGLCYCINAEMIA DUE TO GLRX5 DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S119 - S119, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100415&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2012, 'Defects in lipoate synthesis cause variant non-ketotic hyperglycinemia', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, pp. 289 - 290, presented at 35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 31 March 2012 - 03 April 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000301906400022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'NEXT GENERATION SEQUENCING (NGS) FOR GLYCOGEN STORAGE DISEASES (GSDS) THE FIRST UKGTN APPROVED NGS DIAGNOSTIC STRATEGY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800343&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'NUTRITIONAL ASSESSMENT OF PATIENTS WITH METABOLIC DISORDERS', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S240 - S240, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800560&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'SIMPLIFYING THE KETOGENIC DIET EXPERIENCE IN PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S246 - S246, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800579&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'TWO DE NOVO MUTATIONS AT THE SAME NUCLEOTIDE IN THE OTC GENE OF A MALE', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S91 - S91, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2010, 'DIFFICULTIES IN THE DIETETIC MANAGEMENT OF PATIENTS WITH EARLY CHILDHOOD ONSET: MULTIPLE ACYL CO-A DEHYDROGENASE DEFICIENCY (MADD)', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2010, 'IMPROVED SENSITIVITY FOR HMG CoA SYNTHASE DETECTION USING KEY MARKERS ON ORGANIC ACID SCREEN', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2010, 'IMPROVEMENT IN SEVERE HMG CO-LYASE DEFICIENCY WITH FAT RESTRICTION AND 3-HYDROXYBUTYRATE THERAPY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000161&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'DIETETIC ISSUES IN THE MANAGEMENT OF MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY DIAGNOSED BY NEWBORN SCREENING', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 117 - 117, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600492&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'ISSUES FOR THE INTEGRATED CARE OF CHILDREN AND ADULTS WITH INBORN ERRORS OF METABOLISM', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 132 - 133, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'NEWBORN SCREENING FOR MAPLE SYRUP URINE DISEASE (MSUD) BY TANDEM MASS SPECTROMETRY: OUTCOME', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 109 - 110, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600462&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1