ORCID as entered in ROS

Select Publications
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, 'Where will genetic research take us?', TRANSLATIONAL PEDIATRICS, 4, pp. 318 - 319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09
,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
,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, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. S127 - S128, presented at We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, CA, San Diego, 05 February 2018 - 09 February 2018, 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
,2024, 'Dietary management in MPV17-related depletion syndrome pre- and post- liver transplant: A case study', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, Vol. 141, presented at 45th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 14 April 2024 - 17 April 2024, http://dx.doi.org/10.1016/j.ymgme.2024.108207
,2018, 'Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 198 - 199, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101187&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2023, The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses, http://dx.doi.org/10.1101/2023.11.08.23298009
,2023, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, http://dx.doi.org/10.21203/rs.3.rs-2282768/v1
,2021, GLRX5-associated [Fe-S] Cluster Biogenesis Disorder: Further Characterisation of the Neurological Phenotype and Long-term Outcome., http://dx.doi.org/10.21203/rs.3.rs-614803/v1
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