Sphingolipids: the nexus between Gaucher disease and insulin resistance

por Fuller, Maria
Publicado 2010

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment

por Fuller, Maria
Publicado en Clin Biochem Rev (2020)

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

por Fuller, Maria, Ketteridge, David
Publicado en JIMD Rep (2021)

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

por Saville, Jennifer T., Fuller, Maria
Publicado en Metabolites (2021)

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

por Mordaunt, Dylan, Cox, David, Fuller, Maria
Publicado en Int J Mol Sci (2020)

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

por Hein, Leanne K., Duplock, Stephen, Fuller, Maria
Publicado 2013

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

por Revel-Vilk, Shoshana, Fuller, Maria, Zimran, Ari
Publicado en Int J Mol Sci (2020)

Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA

por Mason, Kerryn, Meikle, Peter, Hopwood, John, Fuller, Maria
Publicado en Metabolites (2014)

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

por Hein, Leanne K., Duplock, Stephen, Hopwood, John J., Fuller, Maria
Publicado 2008

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

Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep

por Lee, Effie, Fuller, Maria, Carr, Mandi, Manavis, Jim, Finnie, John
Publicado en J Vet Diagn Invest (2018)

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 en 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

por Herbst, Zackary M., Urdaneta, Leslie, Klein, Terri, Fuller, Maria, Gelb, Michael H.
Publicado en Int J Neonatal Screen (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 en Mol Genet Metab Rep (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 en JIMD Rep (2020)

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

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

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

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 en BMC Nephrol (2020)

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

por 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
Publicado 2008