Maria Fuller

Adelaide Medical School

Faculty of Health and Medical Sciences

Professor Maria Fuller BAppSc, MAppSc, PhD, FFSc(RCPA)
Genetics and Molecular Pathology,
SA Pathology, Adelaide, South Australia

Maria Fuller is a clinical scientist specialising in biochemical genetics within Genetics and Molecular Pathology at SA Pathology that provides a clinical diagnostic laboratory service for inherited metabolic disorders for patients throughout Australia. Her laboratory is committed to improving the efficiency of diagnosis of these rare diseases, notably lysosomal storage disorders, by employing platforms of multiplexed biomarkers characteristic for the specific types and sub-types of disease. Her laboratory’s research interests centre on understanding the cascade of events that lead to pathology, with a particular focus on the brain, and new approaches for the treatment and diagnosis of these inherited metabolic disorders. Her laboratory has contributed 100 articles and book chapters to the scientific and medical literature.

In addition, Maria also holds an academic title at the University of Adelaide and enjoys supervising post-graduate students, as well as providing training for undergraduate students by hosting clinical placements within her laboratory. Maria has been awarded the 2022 AACB Roman Lecture in recognition of her teaching and mentoring role.

My Research
Career
Publications
Grants and Funding
Teaching
Supervision
Professional Activities
Contact

The National Referral Laboratory (http://www.wch.sa.gov.au/services/az/divisions/labs/geneticmed/nrl.html) provides diagnostic service provisions for patients with inherited metabolic disorders. Our primary research goal is to improve the efficiency of diagnosis, understand pathology and investigate therapeutic strategies. In particular, the laboratory's interest lies in inherited brain disorders which despite presenting throughout life, disease burden is greatest in childhood. Neurological regression is relentless with a loss of acquired skills such as the ability to speak, walk, eat, and has a devastating impact on the child and family. There are no cures and as yet no treatment for the progressive decline in brain function.

Gene therapy has been touted for treating such diseases by replacing the defective gene with a functional one. Our laboratory is involved in gene therapy clinical trials by measuring disease biomarkers from enrolled patients to assess therapeutic efficacy of the gene therapy treatment. However, as therapy begins following diagnosis, when patients are symptomatic, treatment is challenged with reversing pathology that is already entrenched. At best then, treatment may only be able to halt disease progression and stabilise the disease.

To address this we are performing a number of parallel studies in mouse and cell models of these genetic disorders, to learn more about the progression of the neurological process and the irreversibility of disease. Biomarkers of disease activity can then be translated into our diagnostic pathology service for use in patients. Studies in cell models, including neuronal cultures, can inform on mechanisms of disease to learn more about the neurodegenerative decline and open up new avenues for treatment and adjunct therapies to complement gene therapy approaches. The laboratory has a number of higher degree research projects in these areas to join three post-doctoral scientists working in these areas.

Appointments

Date	Position	Institution name
2019 - ongoing	Affiliate Professor, Adelaide Medical School	University of Adelaide
2018 - ongoing	Clinical Scientist, Biochemical Genetics, Head, National Referral Laboratory and Head Translational Research Unit, Genetics and Molecular Pathology	SA Pathology

Awards and Achievements

Date	Type	Title	Institution Name	Country	Amount
2018	Research Award	AACB Roman Lecture Awardee for 2022	Australasian Association for Clinical Biochemistry and Laboratory Medicine	Australia	-
2015	Award	Staff Excellence Award for Innovation and Service Improvement	SA Pathology	Australia	-
2008	Award	Career Development Award	National Health and Medical Research Council (NHMRC)	Australia	-
2006	Award	MS McLeod Medal for Research Excellence	Women's and Children's Hospital	Australia	-
2002	Award	Achievement award for medical research presented by the Honourable Lord Mayor in Adelaide	City of Adelaide	Australia	-
2000	Award	Best Presentation Award	Australian Society of Medical Research Symposia	Australia	-

Education

Date	Institution name	Country	Title
2015	Royal College of Pathologists of Australasia	Australia	FFSc (Research)
	University of South Australia	Australia	B App Sc
	University of South Australia	Australia	M Sc
	University of Adelaide	Australia	PhD

Postgraduate Training

Date Title Institution Country

FFSc (RCPA) Royal College of Pathologists of Australasia Australia

Radiation License Environmental Protection Authority Australia

Date	Title	Institution	Country
	FFSc (RCPA)	Royal College of Pathologists of Australasia	Australia
	Radiation License	Environmental Protection Authority	Australia

Journals

Year	Citation
2024	Camacho-Morales, A., Noriega, L. G., Sánchez-García, A., Torre-Villalvazo, I., Vázquez-Manjarrez, N., Maldonado-Ruiz, R., . . . Rivas-Estilla, A. M. (2024). Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats. Heliyon, 10(20). DOI
2024	Muenzer, J., Ho, C., Lau, H., Dant, M., Fuller, M., Boulos, N., . . . O'Neill, C. (2024). Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses. Molecular Genetics and Metabolism, 142(4), 11 pages. DOI
2023	Nagree, M. S., Rybova, J., Kleynerman, A., Ahrenhoerster, C. J., Saville, J. T., Xu, T., . . . Medin, J. A. (2023). Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.. Commun Biol, 6(1), 20 pages. DOI Scopus3 Europe PMC3
2023	Pericleous, K., McIntyre, C., & Fuller, M. (2023). Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism Reports, 36, 7 pages. DOI
2023	Herbst, Z. M., Hong, X., Urdaneta, L., Klein, T., Waggoner, C., Liao, H. C., . . . Gelb, M. H. (2023). Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis. Molecular Genetics and Metabolism, 140(1-2), 107632. DOI Scopus5 Europe PMC2
2023	ter Huurne, M., Parker, B. L., Liu, N. Q., Qian, E. L., Vivien, C., Karavendzas, K., . . . Elliott, D. A. (2023). GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals. American Journal of Human Genetics, 110(9), 1600-1605. DOI
2023	Saville, J. T., Herbst, Z. M., Gelb, M. H., & Fuller, M. (2023). Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.. Molecular genetics and metabolism, 140(3), 1-6. DOI Scopus5 Europe PMC2
2023	Herbst, Z. M., Hong, X., Sadilek, M., Fuller, M., & Gelb, M. H. (2023). Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans. Molecular Genetics and Metabolism, 140(3), 4 pages. DOI Scopus1 Europe PMC1
2022	Chin, S. J., & Fuller, M. (2022). Prevalence of lysosomal storage disorders in Australia from 2009 to 2020. The Lancet Regional Health - Western Pacific, 19, 6 pages. DOI Scopus24 WoS11 Europe PMC14
2022	Herbst, Z. M., Urdaneta, L., Klein, T., Burton, B. K., Basheeruddin, K., Liao, H. C., . . . Gelb, M. H. (2022). Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II. International Journal of Neonatal Screening, 8(1), 9. DOI Scopus13 Europe PMC8
2022	Nagree, M. S., Felizardo, T. C., Faber, M. L., Rybova, J., Rupar, C. A., Foley, S. R., . . . Medin, J. A. (2022). Autologous, lentivirus-modified, T-rapa cell “micropharmacies” for lysosomal storage disorders. EMBO Molecular Medicine, 14(4), 13 pages. DOI Scopus3 WoS2 Europe PMC3
2022	Mallett, A., Kearey, P. J., Cameron, A., Healy, H. G., Denaro, C., Thomas, M., . . . Hoy, W. E. (2022). The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study. BMC Nephrology, 23(1), 7 pages. DOI Scopus12 Europe PMC7
2022	Phillips, G. R., Saville, J. T., Hancock, S. E., Brown, S. H. J., Jenner, A. M., Mclean, C., . . . Mitchell, T. W. (2022). The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases. Brain Communications, 4(1), 18 pages. DOI Scopus15 WoS8 Europe PMC12
2022	Santana, A. G., Robinson, K., Vickers, C., Deen, M. C., Chen, H. M., Zhou, S., . . . Withers, S. G. (2022). Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models. Angewandte Chemie - International Edition, 61(38), 7 pages. DOI Scopus6 WoS3 Europe PMC2
2022	Blumenreich, S., Nehushtan, T., Barav, O. B., Saville, J. T., Dingjan, T., Hardy, J., . . . Futerman, A. H. (2022). Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation. npj Parkinson's Disease, 8(1), 11 pages. DOI Scopus10 WoS5 Europe PMC7
2022	Donoghue, S. E., Heath, O., Pitt, J., Hong, K. M., Fuller, M., & Smith, J. (2022). Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis. Clinical Chemistry and Laboratory Medicine, 60(11), 1855-1858. DOI Scopus1
2022	Dardis, A., Michelakakis, H., Rozenfeld, P., Fumic, K., Wagner, J., Pavan, E., . . . Aerts, J. (2022). Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1. Orphanet Journal of Rare Diseases, 17(1), 17 pages. DOI Scopus18 WoS4 Europe PMC15
2021	Fuller, M., & Ketteridge, D. (2021). Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. JIMD Reports, 60(1), 10-14. DOI Scopus2 Europe PMC1
2021	Sajeev, M., Chin, S., Ho, G., Bennetts, B., Sankaran, B. P., Gutierrez, B., . . . Balasubramaniam, S. (2021). Challenges in diagnosing intermediate maple syrup urine disease by newborn screening and functional validation of genomic results imperative for reproductive family planning. International Journal of Neonatal Screening, 7(2), 8 pages. DOI Scopus7 WoS3 Europe PMC3
2021	Helman, G., Taylor, L. E., Walkiewicz, M., Le Moing, M., Eggers, S., Yaplito-Lee, J., . . . Simons, C. (2021). Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder. European Journal of Medical Genetics, 64(8), 5 pages. DOI Scopus2 WoS1 Europe PMC1
2021	Saville, J. T., & Fuller, M. (2021). Experience with the urinary tetrasaccharide metabolite for pompe disease in the diagnostic laboratory. Metabolites, 11(7), 11 pages. DOI Scopus6 WoS3 Europe PMC3
2021	Markus, C., Coat, S., Marschall, H. -U., Williamson, C., Dixon, P., Fuller, M., . . . Hague, W. M. (2021). The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trial.. Clinical chemistry and laboratory medicine, 59(12), 1921-1929. DOI Scopus10 WoS2 Europe PMC4
2021	Lehmann, R. J., Jolly, L. A., Johnson, B. V., Lord, M. S., Kim, H. N., Saville, J. T., . . . Derrick-Roberts, A. L. K. (2021). Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells. Molecular Genetics and Metabolism Reports, 29, 100811-1-100811-11. DOI Scopus3 WoS3 Europe PMC3
2021	Saville, J. T., Derrick-Roberts, A. L. K., Mcintyre, C., & Fuller, M. (2021). Systemic scAAV9.U1a.hSGSH Delivery Corrects Brain Biochemistry in Mucopolysaccharidosis Type IIIA at Early and Later Stages of Disease. Human Gene Therapy, 32(7-8), 420-430. DOI Scopus11 WoS6 Europe PMC10
2021	Hague, W. M., Callaway, L., Chambers, J., Chappell, L., Coat, S., de Haan-Jebbink, J., . . . Williamson, C. (2021). A multi-centre, open label, randomised, parallel-group, superiority Trial to compare the efficacy of URsodeoxycholic acid with RIFampicin in the management of women with severe early onset Intrahepatic Cholestasis of pregnancy: the TURRIFIC randomised trial. BMC Pregnancy and Childbirth, 21(1), 51-1-51-14. DOI Scopus26 WoS17 Europe PMC11
2020	Saville, J. T., & Fuller, M. (2020). Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism, 129(2), 111-116. DOI Scopus10 WoS9 Europe PMC8
2020	Fuller, M., & Mehta, A. (2020). Fabry cardiomyopathy: Missing links from genotype to phenotype. Heart, 106(8), 553. DOI Scopus7 WoS2 Europe PMC2
2020	Mordaunt, D., Cox, D., & Fuller, M. (2020). Metabolomics to improve the diagnostic efficiency of inborn errors of metabolism. International Journal of Molecular Sciences, 21(4), 17 pages. DOI Scopus41 WoS25 Europe PMC19
2020	Mallett, A., Kearey, P., Cameron, A., Healy, H., Denaro, C., Thomas, M., . . . Hoy, W. E. (2020). The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: Identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrology, 21(1), 12 pages. DOI Scopus13 WoS5 Europe PMC4
2020	Tchan, M., Henderson, R., Kornberg, A., Kairaitis, K., Fuller, M., Davis, M., . . . McKelvie, P. (2020). Is it Pompe Disease? Australian diagnostic considerations. Neuromuscular Disorders, 30(5), 389-399. DOI Scopus2 Europe PMC1
2020	Fuller, M. (2020). Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment. Clinical Biochemist Reviews, 41(2), 53-66. DOI Scopus12 Europe PMC6
2020	Miltenberger-Miltenyi, G., Cruz-Machado, A., Saville, J., Conceição, V., Calado, Â., Lopes, I., . . . Fonseca, J. (2020). Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients. Rheumatology (Oxford, England), 59(8), 2085-2089. DOI Scopus22 WoS17 Europe PMC11
2020	Chin, S. J., Saville, J. T., McDermott, B. K., Zankl, A., Fletcher, J. M., & Fuller, M. (2020). Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA. JIMD Reports, 55(1), 68-74. DOI Scopus6 Europe PMC5
2020	Revel-Vilk, S., Fuller, M., & Zimran, A. (2020). Value of glucosylsphingosine (Lyso-Gb1) as a biomarker in gaucher disease: A systematic literature review. International Journal of Molecular Sciences, 21(19), 1-33. DOI Scopus64 WoS42 Europe PMC40
2020	Herbst, Z. M., Urdaneta, L., Klein, T., Fuller, M., & Gelb, M. H. (2020). Evaluation of multiple methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis-I. International Journal of Neonatal Screening, 6(3), 69-1-69-13. DOI Scopus28 WoS22 Europe PMC18
2020	Herbst, Z. M., Urdaneta, L., Klein, T., Fuller, M., & Gelb, M. H. (2020). Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.. International journal of neonatal screening, 6(3). DOI
2020	Fuller, M., Perry, R., Saiedi, M., Fletcher, J. M., & Selvanayagam, J. B. (2020). Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy. Molecular Genetics and Metabolism Reports, 25, 3 pages. DOI Scopus1 WoS1 Europe PMC1
2019	Saville, J. T., McDermott, B. K., Chin, S. J., Fletcher, J. M., & Fuller, M. (2019). Expanding the clinical utility of glucosylsphingosine for Gaucher disease. Journal of Inherited Metabolic Disease, 43(3), 558-563. DOI Scopus28 WoS22 Europe PMC17
2019	Saville, J. T., Flanigan, K. M., Truxal, K. V., McBride, K. L., & Fuller, M. (2019). Evaluation of biomarkers for Sanfilippo syndrome. Molecular Genetics and Metabolism, 128(1-2), 68-74. DOI Scopus16 WoS10 Europe PMC8
2019	McIntyre, C., Saville, J., & Fuller, M. (2019). Collection of cerebrospinal fluid from murine lateral ventricles for biomarker determination in mucopolysaccharidosis type IIIA. Journal of Neuroscience Methods, 324, 5 pages. DOI Scopus6 WoS6 Europe PMC3
2019	Diehl, P., Nienaber, F., Zaldivia, M. T. K., Stamm, J., Siegel, P. M., Mellett, N. A., . . . Peter, K. (2019). Lysophosphatidylcholine is a Major Component of Platelet Microvesicles Promoting Platelet Activation and Reporting Atherosclerotic Plaque Instability. Thrombosis and Haemostasis, 119(8), 1295-1310. DOI Scopus36 Europe PMC17
2019	Lee, E., Fuller, M., Carr, M., Manavis, J., & Finnie, J. (2019). Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep. Journal of Veterinary Diagnostic Investigation, 31(1), 118-121. DOI Scopus7 WoS5 Europe PMC1
2019	Saville, J. T., McDermott, B. K., Fletcher, J. M., & Fuller, M. (2019). Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses. Genetics in Medicine, 21(3), 753-757. DOI Scopus41 WoS24 Europe PMC28
2018	Cardenas-Perez, R. E., Fuentes-Mera, L., De La Garza, A. L., Torre-Villalvazo, I., Reyes-Castro, L. A., Rodriguez-Rocha, H., . . . Camacho, A. (2018). Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspring. Nutrition and Metabolism, 15(1), 16 pages. DOI Scopus41 WoS34 Europe PMC18
2018	Smith, N. J. C., Fuller, M., Saville, J. T., & Cox, T. M. (2018). Reduced cerebral vascularization in experimental neuronopathic Gaucher disease. Journal of Pathology, 244(1), 120-128. DOI Scopus18 WoS17 Europe PMC13
2018	Saville, J. T., McDermott, B. K., & Fuller, M. (2018). Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. Molecular Genetics and Metabolism, 123(2), 112-117. DOI Scopus16 WoS15 Europe PMC12
2018	Sudrié-Arnaud, B., Marguet, F., Patrier, S., Martinovic, J., Louillet, F., Broux, F., . . . Bekri, S. (2018). Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. Clinica Chimica Acta, 481, 1-8. DOI Scopus36 WoS28 Europe PMC17
2018	Fuller, M., & Futerman, A. (2018). The brain lipidome in neurodegenerative lysosomal storage disorders. Biochemical and Biophysical Research Communications, 504(3), 623-628. DOI Scopus23 WoS14 Europe PMC16
2017	Saville, J. T., Smith, N. J. C., Fletcher, J. M., & Fuller, M. (2017). Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. Analytica Chimica Acta, 955, 79-85. DOI Scopus17 WoS9 Europe PMC7
2017	Saville, J. T., Thai, H. N., Lehmann, R. J., Derrick-Roberts, A. L. K., & Fuller, M. (2017). Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. Journal of Neurochemistry, 141(2), 287-295. DOI Scopus17 WoS16 Europe PMC11
2017	Talbot, A., Nicholls, K., Fletcher, J. M., & Fuller, M. (2017). A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease. Molecular Genetics and Metabolism, 122(1-2), 121-125. DOI Scopus24 WoS22 Europe PMC21
2016	Saville, J. T., Lehmann, R. J., Derrick-Roberts, A. L. K., & Fuller, M. (2016). Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse. Experimental Neurology, 277, 68-75. DOI Scopus8 WoS8 Europe PMC3
2016	Turner, C. T., Fuller, M., Hopwood, J. J., Meikle, P. J., & Brooks, D. A. (2016). Drug induced exocytosis of glycogen in Pompe disease. Biochemical and Biophysical Research Communications, 479(4), 721-727. DOI Scopus5 WoS6 Europe PMC6
2016	Schiffmann, R., Fuller, M., Clarke, L. A., & Aerts, J. M. F. G. (2016). Is it Fabry disease?. Genetics in Medicine, 18(12), 1181-1185. DOI Scopus71 WoS55 Europe PMC52
2016	Rodriguez-Cuenca, S., Whyte, L., Hagen, R., Vidal-Puig, A., & Fuller, M. (2016). Stearoyl-CoA desaturase 1 Is a key determinant of membrane lipid composition in 3T3-L1 adipocytes. PLoS ONE, 11(9), e0162047. DOI Scopus17 Europe PMC13
2015	Fuller, M., Szer, J., Stark, S., & Fletcher, J. (2015). Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool. Clinica Chimica Acta, 450, 6-10. DOI Scopus24 Europe PMC17
2015	Fuller, M., Mellett, N., Hein, L., Brooks, D., & Meikle, P. (2015). Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts. Molecular Genetics and Metabolism, 114(2), 268-273. DOI Scopus18 WoS15 Europe PMC12
2014	Mason, K., Meikle, P., Hopwood, J., & Fuller, M. (2014). Distribution of heparan sulfate oligosaccharides in murine mucopolysaccharidosis type IIIA. Metabolites, 4(4), 1088-1100. DOI Scopus7 WoS6 Europe PMC5
2014	Schiffmann, R., Forni, S., Swift, C., Brignol, N., Wu, X., Lockhart, D., . . . Sweetman, L. (2014). Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. Journal of the American Heart Association, 3(1), e000394-1-e000394-29. DOI Scopus22 WoS18 Europe PMC11
2014	Fuller, M., Duplock, S., Hein, L., Rigat, B., & Mahuran, D. (2014). Liquid chromatography/electrospray ionisation-tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma. Analytical Biochemistry, 458, 20-26. DOI Scopus23 WoS18 Europe PMC13
2013	Witt, R., Hecht, M., Pazyra-Murphy, M., Cohen, S., Noti, C., van Kuppevelt, T., . . . Segal, R. (2013). Heparan sulfate proteoglycans containing a glypican 5 core and 2-O-sulfo-induronic acid function as Sonic Hedgehog co-receptors to promote proliferation. Journal of Biological Chemistry, 288(36), 26275-26288. DOI Scopus55 WoS50 Europe PMC40
2013	Hattersley, K., Hein, L., & Fuller, M. (2013). Lipid composition of membrane rafts, isolated with and without detergent, from the spleen of a mouse model of Gaucher disease. Biochemical and Biophysical Research Communications, 442(1-2), 62-67. DOI Scopus24 WoS24 Europe PMC15
2013	Sanders, A., Hemmelgarn, H., Melrose, H., Hein, L., Fuller, M., & Clarke, L. (2013). Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease. Blood Cells, Molecules, and Diseases, 51(2), 109-115. DOI Scopus25 WoS23 Europe PMC17
2013	Camacho, A., Huang, J., Delint-Ramirez, I., Tan, C., Fuller, M., Lelliott, C., . . . Franklin, R. (2013). Peroxisome proliferator-activated receptor gamma-coactivator-1 alpha coordinates sphingolipid metabolism, lipid raft composition and myelin protein synthesis. European Journal of Neuroscience, 38(5), 2672-2683. DOI Scopus19 WoS16 Europe PMC13
2013	Camacho, A., Rodriguez-Cuenca, S., Blount, M., Prieur, X., Barbarroja, N., Fuller, M., . . . Vidal-Puig, A. (2013). Corrigendum to "Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress response" [Exp. Neurol. 237/2 (2012) 396-406]. Experimental Neurology, 239(1), 101. DOI
2013	Young-Gqamana, B., Brignol, N., Chang, H., Khanna, R., Soska, R., Fuller, M., . . . Benjamin, E. (2013). Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patients. PLoS One, 8(3), e57631-1-e57631-14. DOI Scopus40 WoS33 Europe PMC25
2013	Hein, L., Duplock, S., & Fuller, M. (2013). Selective reduction of bis(monoacylglycero)phosphate ameliorates the storage burden in a THP-1 macrophage model of Gaucher disease. Journal of Lipid Research, 54(6), 1691-1697. DOI Scopus23 WoS23 Europe PMC17
2013	Pyragius, C., Fuller, M., Ricciardelli, C., & Oehler, M. (2013). Aberrant lipid metabolism: an emerging diagnostic and therapeutic target in ovarian cancer. International Journal of Molecular Sciences (Online), 14(4), 7742-7756. DOI Scopus35 WoS31 Europe PMC28
2012	Camacho, A., Rodriguez-Cuenca, S., Blount, M., Prieur, X., Barbarroja, N., Fuller, M., . . . Vidal-Puig, A. (2012). Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress response. Experimental Neurology, 237(2), 396-406. DOI Scopus24 WoS23 Europe PMC17
2012	Dawson, G., Fuller, M., Hemsley, K., & Hopwood, J. (2012). Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain. Neurochemical Research, 37(6), 1372-1380. DOI Scopus24 WoS21 Europe PMC17
2012	Auclair, D., Finnie, J., Walkley, S., White, J., Nielsen, T., Fuller, M., . . . Hopwood, J. (2012). Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats. Pediatric Research, 71(1), 39-45. DOI Scopus32 WoS29 Europe PMC20
2012	Fuller, M., Duplock, S., Turner, C., Davey, P., Brooks, D., Hopwood, J., & Meikle, P. (2012). Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouse. Analytical Biochemistry, 421(2), 759-763. DOI Scopus10 WoS10 Europe PMC9
2012	Fuller, M. (2012). Gaucher's disease in the lipidomics era. Clinical Lipidology, 7(4), 431-441. DOI Scopus1 WoS1
2011	Boslem, E., Macintosh, G., Preston, A., Bartley, C., Busch, A., Fuller, M., . . . Biden, T. (2011). A lipidomic screen of palmitate-treated MIN6 β-cells links sphingolipid metabolites with endoplasmic reticulum (ER) stress and impaired protein trafficking. Biochemical Journal, 435(1), 267-276. DOI Scopus132 WoS124 Europe PMC104
2011	Kondagari, G., King, B., Thomson, P., Williamson, P., Clements, P., Fuller, M., . . . Taylor, R. (2011). Treatment of canine fucosidosis by intracisternal enzyme infusion. Experimental Neurology, 230(2), 218-226. DOI Scopus26 WoS25 Europe PMC20
2011	Crawley, A., Marshall, N., Beard, H., Hassiotis, S., Walsh, V., King, B., . . . Hemsley, K. (2011). Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiology of Disease, 43(2), 422-434. DOI Scopus46 WoS43 Europe PMC36
2011	Fuller, M., Tucker, J., Lang, D., Dean, C., Fietz, M., Meikle, P., & Hopwood, J. (2011). Screening patients referred to a metabolic clinic for lysosomal storage disorders. Journal of Medical Genetics, 48(6), 422-425. DOI Scopus37 WoS31 Europe PMC25
2011	Boslem, E., Macintosh, G., Preston, A. M., Bartley, C., Busch, A. K., Fuller, M., . . . Biden, T. J. (2011). A lipidomic screen of palmitate-treated MIN6 β-cells links sphingolipid metabolites with endoplasmic reticulum (ER) stress and impaired protein trafficking (Biochemical Journal (2011) 435, (267-276)). Biochemical Journal, 439(3), 517-518. DOI
2010	Fuller, M. (2010). Sphingolipids: the nexus between Gaucher disease and insulin resistance. Lipids in Health and Disease, 9(113), 1-12. DOI Scopus43 WoS34 Europe PMC21
2010	Nielsen, T., Rozek, T., Hopwood, J., & Fuller, M. (2010). Determination of urinary oligosaccharides by high-performance liquid chromatography/electrospray ionization-tandem mass spectrometry: Application to Hunter syndrome. Analytical Biochemistry, 402(2), 113-120. DOI Scopus35 WoS28 Europe PMC18
2010	Snel, M., & Fuller, M. (2010). High-spatial resolution matrix-assisted laser desorption ionization imaging analysis of glucosylceramide in spleen sections from a mouse model of Gaucher Disease. Analytical Chemistry, 82(9), 3664-3670. DOI Scopus32 WoS29 Europe PMC21
2010	Auclair, D., Finnie, J., White, J., Nielsen, T., Fuller, M., Kakkis, E., . . . Hopwood, J. (2010). Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen. Molecular Genetics and Metabolism, 99(2), 132-141. DOI Scopus36 WoS32 Europe PMC23
2010	Tan, M., Fuller, M., Zabidi-Hussin, Z., Hopwood, J., & Meikle, P. (2010). Biochemical profiling to predict disease severity in metachromatic leukodystrophy. Molecular Genetics and Metabolism, 99(2), 142-148. DOI Scopus25 WoS19 Europe PMC18
2009	Hemsley, K., Norman, E., Crawley, A., Auclair, D., King, B., Fuller, M., . . . Hopwood, J. (2009). Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs-A proof of principle study. Molecular Genetics and Metabolism, 98(4), 383-392. DOI Scopus53 WoS52 Europe PMC36
2009	Maegawa, G., Tropak, M., Buttner, J., Rigat, B., Fuller, M., Pandit, D., . . . Mahuran, D. (2009). Identification and characterization of Ambroxol as an enzyme enhancement agent for Gaucher Disease. Journal of Biological Chemistry, 284(35), 23502-23516. DOI Scopus269 WoS231 Europe PMC170
2009	Hemsley, K., Luck, A., Crawley, A., Hassiotis, S., Beard, H., King, B., . . . Hopwood, J. (2009). Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease. European Journal of Neuroscience, 29(6), 1197-1214. DOI Scopus64 WoS64 Europe PMC46
2008	Nielsen, T., Meikle, P., Hopwood, J., & Fuller, M. (2008). Minimum substrate requirements of endoglycosidase activities toward dermatan sulfate by electrospray ionization-tandem mass spectrometry. Glycobiology, 18(12), 1119-1128. DOI Scopus6 WoS5 Europe PMC3
2008	Hein, L., Duplock, S., Hopwood, J., & Fuller, M. (2008). Lipid composition of microdomains is altered in a cell model of Gaucher disease. Journal of Lipid Research, 49(8), 1725-1734. DOI Scopus52 WoS48 Europe PMC45
2008	Meikle, P., Whitfield, P., Rozaklis, T., Blacklock, D., Duplock, S., Elstein, D., . . . Fuller, M. (2008). Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention. Blood Cells Molecules and Diseases, 40(3), 420-427. DOI Scopus26 WoS26 Europe PMC18
2008	Fuller, M., Rozaklis, T., Lovejoy, M., Zarrinkalam, K., Hopwood, J., & Meikle, P. (2008). Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease. Molecular Genetics and Metabolism, 93(4), 437-443. DOI Scopus36 WoS33 Europe PMC23
2008	Meikle, P., Duplock, S., Blacklock, D., Whitfield, P., Macintosh, G., Hopwood, J., & Fuller, M. (2008). Effect of lysosomal storage on bis(monoacylglycero)phosphate. Biochemical Journal, 411(Part 1), 71-78. DOI Scopus74 WoS70 Europe PMC55
2008	Ausseil, J., Desmaris, N., Bigou, S., Attali, R., Corbineau, S., Vitry, S., . . . Heard, J. M. (2008). Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS ONE, 3(5), 11 pages. DOI Scopus110 WoS97 Europe PMC81
2008	Fuller, M., & Hopwood, J. (2008). Surrogate biochemical markers for lysosomal storage disorders. JOURNAL OF INHERITED METABOLIC DISEASE, 31, 97.
2007	Hein, L., Meikle, P., Hopwood, J., & Fuller, M. (2007). Secondary sphingolipid accumulation in a macrophage model of Gaucher disease. Molecular Genetics and Metabolism, 92(4), 336-345. DOI Scopus50 WoS45 Europe PMC38
2006	Meikle, P., Grasby, D., Dean, C., Lang, D., Bockmann, M., Whittle, A., . . . Hopwood, J. (2006). Newborn screening for lysosomal storage disorders. Molecular Genetics and Metabolism, 88(4), 307-314. DOI Scopus142 WoS121 Europe PMC90
2006	Parkinson-Lawrence, E., Fuller, M., Hopwood, J., Meikle, P., & Brooks, D. (2006). Immunochemistry of lysosomal storage disorders. Clinical Chemistry, 52(9), 1660-1668. DOI Scopus25 WoS24 Europe PMC15
2006	Crawley, A., Gliddon, B., Auclair, D., Brodie, S., Hirte, C., King, B., . . . Hopwood, J. (2006). Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA. Brain Research, 1104(1), 1-17. DOI Scopus90 WoS82 Europe PMC65
2006	Mason, K., Meikle, P., Hopwood, J., & Fuller, M. (2006). Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry. Analytical Chemistry, 78(13), 4534-4542. DOI Scopus35 WoS29 Europe PMC22
2006	King, B., Savas, P., Fuller, M., Hopwood, J., & Hemsley, K. (2006). Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism, 87(2), 107-112. DOI Scopus28 WoS27 Europe PMC21
2006	Fuller, M., Chau, A., Nowak, R., Hopwood, J., & Meikle, P. (2006). A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates. Glycobiology, 16(4), 318-325. DOI Scopus22 WoS17 Europe PMC11
2005	Fuller, M., Lovejoy, M., Hopwood, J., & Meikle, P. (2005). Immunoquantification of b-glucosidase: Diagnosis and prediction of severity in Gaucher disease. Clinical Chemistry, 51(11), 2200-2202. DOI Scopus8 WoS10 Europe PMC5
2005	Wraith, J., Hopwood, J., Fuller, M., Meikle, P., & Brooks, D. (2005). Laronidase treatment of mucopolysaccharidosis I. Biodrugs, 19(1), 1-7. DOI Scopus46 WoS36 Europe PMC22
2005	Fuller, M., Sharp, P., Rozaklis, T., Whitfield, P., Blacklock, D., Hopwood, J., & Meikle, P. (2005). Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes. Clinical Chemistry, 51(4), 688-694. DOI Scopus53 WoS50 Europe PMC35
2005	Fuller, M., Brooks, D., Evangelista, M., Hein, L., Hopwood, J., & Meikle, P. (2005). Prediction of neuropathology in mucopolysaccharidosis I patients. Molecular Genetics and Metabolism, 84(1), 18-24. DOI Scopus41 WoS38 Europe PMC22
2004	Ramsay, S., Maire, I., Bindloss, C., Fuller, M., Whitfield, P., Piraud, M., . . . Meikle, P. (2004). Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Molecular Genetics and Metabolism, 83(3), 231-238. DOI Scopus54 WoS39 Europe PMC23
2004	Fuller, M., & Anson, D. (2004). Can the use of HIV-1 derived gene transfer vectors for clinical application be justified?. Current Gene Therapy, 4(1), 65-77. DOI Scopus7 Europe PMC3
2004	Fuller, M., Rozaklis, T., Ramsay, S., Hopwood, J., & Meikle, P. (2004). Disease-specific markers for the mucopolysaccharidoses. Pediatric Research, 56(5), 733-738. DOI Scopus72 WoS58 Europe PMC40
2004	Fuller, M., Lovejoy, M., Brooks, D., Harkin, M., Hopwood, J., & Meikle, P. (2004). Immunoquantification of a-galactosidase: Evaluation for the diagnosis of Fabry Disease. Clinical Chemistry, 50(11), 1979-1985. DOI Scopus54 WoS52 Europe PMC32
2004	Meikle, P., Ranieri, E., Simonsen, H., Rozaklis, T., Ramsay, S., Whitfield, P., . . . Hopwood, J. (2004). Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics, 114(4), 909-916. DOI Scopus101 WoS65 Europe PMC47
2004	Fuller, M., Meikle, P., & Hopwood, J. (2004). Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. Glycobiology, 14(5), 443-450. DOI Scopus52 WoS44 Europe PMC28
2003	Anson, D., & Fuller, M. (2003). Rational development of a HIV-1 gene therapy vector. Journal of Gene Medicine, 5(10), 829-838. DOI Scopus33 Europe PMC28
2003	Meikle, P. J., Fuller, M., & Hopwood, J. J. (2003). Mass spectrometry in the study of lysosomal storage disorders.. Cellular and molecular biology (Noisy-le-Grand, France), 49(5), 769-777. Scopus14 WoS13 Europe PMC9
2002	Limberis, M., Anson, D., Fuller, M., & Parsons, D. (2002). Recovery of airway cystic fibrosis transmembrane conductance regulator function in mice with cystic fibrosis after single-dose lentivirus-mediated gene transfer. Human Gene Therapy, 13(16), 1961-1970. DOI Scopus124 WoS110 Europe PMC85
2001	Fuller, M., & Anson, D. (2001). Helper plasmids for production of HIV-1-derived vectors. Human Gene Therapy, 12(17), 2081-2093. DOI Scopus21 Europe PMC17
2001	Limberis, M., Martella, T., Fuller, M., Anson, D. S., & Parsons, D. W. (2001). A lentiviral gene transfer vector for airway epithelium. Respirology, 6(SUPPL. 1).
2000	Bielicki, J., Muller, V., Fuller, M., Hopwood, J., & Anson, D. (2000). Recombinant canine a-L-fucosidase: expression, purification, and characterization. Molecular Genetics and Metabolism, 69(1), 24-32. DOI Scopus6 WoS6 Europe PMC1
1998	Fuller, M., Hopwood, J., & Anson, D. (1998). Receptor Mediated Binding of Two Glycosylation Forms of N-Acetylgalactosamine-4-Sulphatase. Biochimica et Biophysica Acta, 1406(3), 283-290. DOI Scopus10 WoS8 Europe PMC4
1997	Ferrara, M., Occhiodoro, T., Fuller, M., Hawthorne, W., Teutsch, S., Tucker, V., . . . Anson, D. (1997). Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. Neuromuscular Disorders, 7(5), 361-366. DOI Scopus15 WoS15 Europe PMC8
1995	Bielicki, J., Fuller, M., Guo, X. H., Morris, C., Hopwood, J., & Anson, D. (1995). Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase. Biochemical Journal, 311(1), 333-339. DOI Scopus33 WoS33 Europe PMC26
1995	Fuller, M., Van der Ploeg, A., Reuser, A., Anson, D., & Hopwood, J. (1995). Isolation and characterisation of a recombinant precursor form of lysosomal acid α-glucosidase. Biochemical Journal, 234(3), 903–909. DOI Scopus48 WoS38 Europe PMC28
-	T Turner, C., & Fuller, M. (n.d.). Glycogen Exocytosis from Cultured Pompe Skin Fibroblasts. Translational Biomedicine, 6(2). DOI

Book Chapters

Year	Citation
2022	Fuller, M., & Goldblatt, J. (2022). Genetics of lysosomal storage diseases. In Lysosomal Storage Disorders: A Practical Guide (pp. 59-67). Wiley. DOI
2014	Kamei, M., Kasperski, K., Fuller, M., Parkinson-Lawrence, E., Karageorgos, L., Belakhov, V., . . . Brooks, D. (2014). Aminoglycoside-induced premature stop codon read-through of mucopolysaccharidosis type I patient Q70X and W402X mutations in cultured cells. In J. Zschocke, K. Gibson, G. BRown, E. Morava, & V. Peters (Eds.), JIMD Reports - Case and Research Reports, Volume 13 (Vol. 13, pp. 139-147). Heidelberg: Springer. DOI Scopus18 Europe PMC10
2012	Brooks, D. A., & Fuller, M. (2012). Lysosomal Disorders. In Chemical Biology: Approaches to Drug Discovery and Development to Targeting Disease (pp. 461-481). Wiley. DOI
2006	Meikle, P. J., Fuller, M., & Hopwood, J. J. (2006). Epidemiology and screening policy. In A. H. Futerman, & A. Zimran (Eds.), Gaucher Disease (pp. 321-340). CRC Press. DOI Scopus10
2005	Meikle, P. J., Fuller, M., & Hopwood, J. J. (2005). Lysosomal degradation of heparin and heparan sulfate. In Chemistry and Biology of Heparin and Heparan Sulfate (pp. 285-311). Elsevier. DOI Scopus4

Conference Papers

Year	Citation
2022	Bruell, S., Lau, R. W. K., Saini, S., Fuller, M., Ter Huurne, M., Elliott, D., . . . Ricardo, S. (2022). MODELLING FABRY DISEASE WITH INDUCED PLURIPOTENT STEM CELL-DERIVED PODOCYTES. In NEPHROLOGY Vol. 27 (pp. 41). WILEY.
2010	Fuller, M., Hein, L., Snel, M., & Hopwood, J. (2010). Lipids and membrane microdomains in Gaucher disease. In MOLECULAR GENETICS AND METABOLISM Vol. 99 (pp. S18). Miami, FL: ACADEMIC PRESS INC ELSEVIER SCIENCE. DOI
2010	Clarke, J., Kolodny, E., Mahuran, D., Fuller, M., Tropak, M., Keimel, J., . . . Rigat, B. (2010). Open-label Phase I/II clinical trial of pyrimethamine for the treatment of chronic GM2 gangliosidosis. In MOLECULAR GENETICS AND METABOLISM Vol. 99 (pp. S14). Miami, FL: ACADEMIC PRESS INC ELSEVIER SCIENCE. DOI WoS1
2010	Boslem, E., Preston, A. M., Fuller, M., Laybutt, D. R., Meikle, P. J., & Biden, T. J. (2010). A lipidomic screen of lipotoxic pancreatic beta cells reveals links between ceramide accumulation in the endoplasmic reticulum (ER), impaired protein trafficking, ER stress and apoptosis. In DIABETOLOGIA Vol. 53 (pp. S210). Stockholm, SWEDEN: SPRINGER.
2010	Matern, D., Lacey, J. M., Sanders, K. A., Kroll, C. A., Magera, M. J., Hopwood, J., . . . Raymond, K. (2010). FIRST STEPS TOWARDS DETERMINATION OF THE MOST EFFICIENT AND EFFECTIVE NEWBORN SCREENING (NBS) APPROACH FOR LYSOSOMAL STORAGE DISORDERS (LSD). In MOLECULAR GENETICS AND METABOLISM Vol. 99 (pp. 225). Albuquerque, NM: ACADEMIC PRESS INC ELSEVIER SCIENCE.
2006	Clements, P. R., Fuller, M., Meikle, P. J., & Hopwood, J. J. (2006). Urine screening for lysosomal storage disorders by tandem mass spectrometry. In JOURNAL OF INHERITED METABOLIC DISEASE Vol. 29 (pp. 41). SPRINGER.
1994	Albersheim, P., An, J., Freshour, G., Fuller, M. S., Guillen, R., Ham, K. S., . . . Darvill, A. (1994). Structure and function studies of plant cell wall polysaccharides. In Biochemical Society Transactions Vol. 22 (pp. 374-378). England: Portland Press Ltd.. DOI Scopus80 Europe PMC33

Prof. Fuller has attracted more than $4 million in competitive research funding through national and local funding schemes such as the National Health and Medical Research Council, Women’s and Children’s Hospital Research Foundation, Channel 7 Children’s Research Foundation, Sanfilippo Children’s Foundation and the National Heart Foundation, as well as internationally through the US MPS Society and The Centre for Orphan Disease Research and Therapy (University of Pennsylvania) as well as commercial funding through pharmaceutical companies and clinical trial sponsors.

Prof. Fuller is an accomplished teacher and mentor, having successfully supervised undergraduate, Honours, and HDR students:

Undergraduate Genetics III student placements (2016-current)
Eighteen Honours students (two current)
Three Masters students (two current)
Four PhD students (one current) completed

Current Higher Degree by Research Supervision (University of Adelaide)

Date	Role	Research Topic	Program	Degree Type	Student Load	Student Name
2024	Principal Supervisor	Biomarkers for intrahepatic cholestasis of pregnancy	Doctor of Philosophy	Doctorate	Full Time	Miss Stephanie Roanna Iankov
2022	Principal Supervisor	Exploring the cell pathology of Gaucher disease	Doctor of Philosophy	Doctorate	Full Time	Miss Ashleigh Lake
2020	Principal Supervisor	Characterisation of the biochemical and functional phenotype of the brain and primary neuronal cultures to further understand the neuropathology in a childhood inherited neurodegenerative disorder.	Doctor of Philosophy	Doctorate	Part Time	Miss Kleopatra Pericleous

Past Higher Degree by Research Supervision (University of Adelaide)

Date	Role	Research Topic	Program	Degree Type	Student Load	Student Name
2006 - 2014	Co-Supervisor	Substrate Localisation as a Therapeutic Option for Pompe Disease	Doctor of Philosophy	Doctorate	Full Time	Mr Christopher Turner
2005 - 2009	Principal Supervisor	Identification and Characterisation of Endoglycosidase Activities Towards Dermatan Sulphate by Tandem Mass Spectrometry	Doctor of Philosophy	Doctorate	Full Time	Mr Timothy Nielsen

Board Memberships

Date	Role	Board name	Institution name	Country
2020 - 2020	Member	Review and Assessment Board	TV3 Marato on Rare Diseases	Spain
2019 - ongoing	Board Member	Fabry disease	Lysosomal diseases	Australia
2019 - ongoing	Advisory Board Member	Gaucher disease	Lysosomal diseases	Australia

Committee Memberships

Date	Role	Committee	Institution	Country
2019 - 2019	Member	Steering Committee	Fabry MasterClass (Europe)	Netherlands
2019 - ongoing	Member	Steering Committee	Lysosomal Storage Disorder Summit (Australia)	Australia
2018 - 2021	Member	Faculty	European Symposium on Lysosomal Storage Disorders	Germany
2017 - 2017	Member	Scientific Advisory Committee	The 2nd International Electronic Conference on Metabolomics	Australia

Editorial Boards

Date	Role	Editorial Board Name	Institution	Country
2018 - ongoing	Editor	Metabolites Journal	MDPI	Switzerland
2018 - 2018	Editor	2018 Paediatric Resource Centre	Molecular Genetics and Metabolism	Australia

Offices Held

Date Office Name Institution Country

2019 - ongoing Academic Lead, MBBS Admissions Working Group University of Adelaide Australia

Date	Office Name	Institution	Country
2019 - ongoing	Academic Lead, MBBS Admissions Working Group	University of Adelaide	Australia

Review, Assessment, Editorial and Advice

Date	Title	Type	Institution	Country
2018 - ongoing	Laboratory Assessor	Advice	National Association of Testing Authorities (NATA)	Australia
2017 - 2019	Reviewer and Scientific Committee Member	Peer Review	Bellberry Human Ethics	-
2015 - ongoing	Manuscript Reviewer	Journal Review	Analytical Chemistry, Australian Journal of Medical Science, Biochemical Journal, Biochimica Biophysica Acta, BioScience Reports, Clinical Biochemistry, Clinical Chemistry, Clinical Chemistry and Laboratory Medicine, European Journal of Human Genetics, Expert Review of Endocrinology and Metabolism, Heart, Human Genetics, Journal of Chromatography, Journal of Inherited Metabolic Disease, Molecular Genetics and Metabolism	-
2015 - ongoing	Reviewer for Grant Funding Applications and Postdoctoral Fellowships	Grant Assessment	NHMRC, WCH Research Foundation, Channel 7 Children’s Foundation, Sanfilippo Children’s Foundation (Australia), US MPS Society, Human Frontiers Science Program (Europe), UK Leukemia and Lymphoma Research, Canadian Institutes of Health Research and Vaincre les Maladies Lysosomales (France), ZonMw (The Netherlands) Slovak Academy of Sciences and the Ministry of Science and Technology (Taiwan).	-

Email: maria.fuller@adelaide.edu.au