Publications by authors named "Maria Fuller"

Claim this Profile
S
Sphingolipids in Gaucher disease: a systematic review.
Ashleigh Lake, Maria Fuller

Orphanet J Rare Dis· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.
Emily N Barker, Mehrafarin Ashiri, Jennifer T Saville, Richard Hemming, Nikolas Furletti, Maria Fuller

Biol Open· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.
Ashleigh Lake, Jennifer Saville, Maria Fuller

Mol Genet Metab· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.
Andrea F Wise, Igaa Ari Krisnadevi, Shoni Bruell, Han-Chung Lee, Tejasvini Bhuvan, Maria Fuller

Kidney Int Rep· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.
Annie Kleynerman, Jitka Rybova, William M McKillop, Theresa A Dlugi, Mary L Faber, Maria Fuller

Am J Physiol Heart Circ Physiol· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Jasmina Markulić, Maria Fuller

BMJ Open· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats.
Alberto Camacho-Morales, Lilia G Noriega, Adriana Sánchez-García, Ivan Torre-Villalvazo, Natalia Vázquez-Manjarrez, Maria Fuller

Heliyon· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses.
Joseph Muenzer, Carole Ho, Heather Lau, Mark Dant, Maria Fuller

Mol Genet Metab· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Zackary M Herbst, Xinying Hong, Leslie Urdaneta, Terri Klein, Christine Waggoner, Maria Fuller

Mol Genet Metab· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.
Jennifer T Saville, Zackary M Herbst, Michael H Gelb, Maria Fuller

Mol Genet Metab· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
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.
Zackary M Herbst, Xinying Hong, Martin Sadilek, Maria Fuller, Michael H Gelb

Mol Genet Metab· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA.
Kleopatra Pericleous, Chantelle McIntyre, Maria Fuller

Mol Genet Metab Rep· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Menno Ter Huurne, Benjamin L Parker, Ning Qing Liu, Elizabeth Ling Qian, Celine Vivien, Maria Fuller

Am J Hum Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Murtaza S Nagree, Jitka Rybova, Annie Kleynerman, Carissa J Ahrenhoerster, Jennifer T Saville, Maria Fuller

Commun Biol· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.
Sarah E Donoghue, Oliver Heath, James Pitt, Kai Mun Hong, Maria Fuller

Clin Chem Lab Med· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
Andrés G Santana, Kyle Robinson, Chelsea Vickers, Matthew C Deen, Hong-Ming Chen, Maria Fuller

Angew Chem Int Ed Engl· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.
Shani Blumenreich, Tamar Nehushtan, Or B Barav, Jennifer T Saville, Tamir Dingjan, Maria Fuller

NPJ Parkinsons Dis· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.
Andrew Mallett, Phoebe Jane Kearey, Anne Cameron, Helen G Healy, Charles Denaro, Maria Fuller

BMC Nephrol· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders.
Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, Maria Fuller

EMBO Mol Med· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of lysosomal storage disorders in Australia from 2009 to 2020.
Sharon J Chin, Maria Fuller

Lancet Reg Health West Pac· February 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.
Zackary M Herbst, Leslie Urdaneta, Terri Klein, Barbara K Burton, Khaja Basheeruddin, Maria Fuller

Int J Neonatal Screen· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.
Rebecca J Lehmann, Lachlan A Jolly, Brett V Johnson, Megan S Lord, Ha Na Kim, Maria Fuller

Mol Genet Metab Rep· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases.
Gabrielle R Phillips, Jennifer T Saville, Sarah E Hancock, Simon H J Brown, Andrew M Jenner, Maria Fuller

Brain Commun· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trial.
Corey Markus, Suzette Coat, Hanns-Ulrich Marschall, Catherine Williamson, Peter Dixon, Maria Fuller

Clin Chem Lab Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Jennifer T Saville, Maria Fuller

Metabolites· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis