Sphingolipids: the nexus between Gaucher disease and insulin resistance

by Fuller, Maria
Published 2010

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment

by Fuller, Maria
Published in Clin Biochem Rev (2020)

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

by Fuller, Maria, Ketteridge, David
Published in JIMD Rep (2021)

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

by Saville, Jennifer T., Fuller, Maria
Published in Metabolites (2021)

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

by Mordaunt, Dylan, Cox, David, Fuller, Maria
Published in Int J Mol Sci (2020)

Selective reduction of bis(monoacylglycero)phosphate ameliorates the storage burden in a THP-1 macrophage model of Gaucher disease

by Hein, Leanne K., Duplock, Stephen, Fuller, Maria
Published 2013

Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

by Revel-Vilk, Shoshana, Fuller, Maria, Zimran, Ari
Published in Int J Mol Sci (2020)

Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA

by Mason, Kerryn, Meikle, Peter, Hopwood, John, Fuller, Maria
Published in Metabolites (2014)

Lipid composition of microdomains is altered in a cell model of Gaucher disease

by Hein, Leanne K., Duplock, Stephen, Hopwood, John J., Fuller, Maria
Published 2008

Aberrant Lipid Metabolism: An Emerging Diagnostic and Therapeutic Target in Ovarian Cancer

by Pyragius, Carmen E., Fuller, Maria, Ricciardelli, Carmela, Oehler, Martin K.
Published 2013

Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep

by Lee, Effie, Fuller, Maria, Carr, Mandi, Manavis, Jim, Finnie, John
Published in J Vet Diagn Invest (2018)

Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 Adipocytes

by Rodriguez-Cuenca, Sergio, Whyte, Lauren, Hagen, Rachel, Vidal-Puig, Antonio, Fuller, Maria
Published in PLoS One (2016)

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

by Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Fuller, Maria, Gelb, Michael H.
Published in Int J Neonatal Screen (2020)

Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy

by Fuller, Maria, Perry, Rebecca, Saiedi, Madiha, Fletcher, Janice M., Selvanayagam, Joseph B.
Published in Mol Genet Metab Rep (2020)

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

by Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria
Published in JIMD Rep (2020)

Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress response

by Camacho, Alberto, Rodriguez-Cuenca, Sergio, Blount, Margaret, Prieur, Xavier, Barbarroja, Nuria, Fuller, Maria, Hardingham, Giles E., Vidal-Puig, Antonio
Published 2012

Corrigendum to “Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress response” [Exp. Neurol. 237/2 (2012) 396–406]

by Camacho, Alberto, Rodriguez-Cuenca, Sergio, Blount, Margaret, Prieur, Xavier, Barbarroja, Nuria, Fuller, Maria, Hardingham, Giles E., Vidal-Puig, Antonio
Published 2013

Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells

by Kamei, Makoto, Kasperski, Karissa, Fuller, Maria, Parkinson-Lawrence, Emma J., Karageorgos, Litsa, Belakhov, Valery, Baasov, Timor, Hopwood, John J., Brooks, Doug A.
Published 2013

The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

by Mallett, Andrew, Kearey, Phoebe, Cameron, Anne, Healy, Helen, Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha, Fuller, Maria, Hoy, Wendy E.
Published in BMC Nephrol (2020)

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

by Ausseil, Jérôme, Desmaris, Nathalie, Bigou, Stéphanie, Attali, Ruben, Corbineau, Sébastien, Vitry, Sandrine, Parent, Mathieu, Cheillan, David, Fuller, Maria, Maire, Irène, Vanier, Marie-Thérèse, Heard, Jean-Michel
Published 2008