Sphingolipids: the nexus between Gaucher disease and insulin resistance

por Fuller, Maria
Publicado 2010

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

por Fuller, Maria, Ketteridge, David
Publicado 2021

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

por Saville, Jennifer T., Fuller, Maria
Publicado 2021

Prevalence of lysosomal storage disorders in Australia from 2009 to 2020

por Chin, Sharon J, Fuller, Maria
Publicado 2021

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

por Mordaunt, Dylan, Cox, David, Fuller, Maria
Publicado 2020

Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA

por Pericleous, Kleopatra, McIntyre, Chantelle, Fuller, Maria
Publicado 2023

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

por Revel-Vilk, Shoshana, Fuller, Maria, Zimran, Ari
Publicado 2020

Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA

por Mason, Kerryn, Meikle, Peter, Hopwood, John, Fuller, Maria
Publicado 2014

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

por Pyragius, Carmen E., Fuller, Maria, Ricciardelli, Carmela, Oehler, Martin K.
Publicado 2013

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

por Rodriguez-Cuenca, Sergio, Whyte, Lauren, Hagen, Rachel, Vidal-Puig, Antonio, Fuller, Maria
Publicado 2016

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

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Fuller, Maria, Gelb, Michael H.
Publicado 2020

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

por Fuller, Maria, Perry, Rebecca, Saiedi, Madiha, Fletcher, Janice M., Selvanayagam, Joseph B.
Publicado 2020

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

por Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria
Publicado 2020

Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation

por Blumenreich, Shani, Nehushtan, Tamar, Barav, Or B., Saville, Jennifer T., Dingjan, Tamir, Hardy, John, Fuller, Maria, Futerman, Anthony H.
Publicado 2022

Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress response

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

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

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

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Burton, Barbara K., Basheeruddin, Khaja, Liao, Hsuan-Chieh, Fuller, Maria, Gelb, Michael H.
Publicado 2022

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

por Mallett, Andrew, Kearey, Phoebe, Cameron, Anne, Healy, Helen, Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha, Fuller, Maria, Hoy, Wendy E.
Publicado 2020

Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders

por Nagree, Murtaza S, Felizardo, Tania C, Faber, Mary L, Rybova, Jitka, Rupar, C Anthony, Foley, S Ronan, Fuller, Maria, Fowler, Daniel H, Medin, Jeffrey A
Publicado 2022

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells

por Lehmann, Rebecca J., Jolly, Lachlan A., Johnson, Brett V., Lord, Megan S., Kim, Ha Na, Saville, Jennifer T., Fuller, Maria, Byers, Sharon, Derrick-Roberts, Ainslie L.K.
Publicado 2021