Maria Fuller

North Terrace
Adelaide, SA 5000, Australia

Last Updated: 09/26/2026

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Found 87 publications

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

Journal: Molecular genetics and metabolism

Published: November 26, 2025

Sphingolipids in Gaucher disease: a systematic review.

Sphingolipids in Gaucher disease: a systematic review.

Journal: Orphanet journal of rare diseases

Published: July 07, 2025

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Journal: Biology open

Published: June 30, 2025

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.

Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease.

Journal: Molecular genetics and metabolism

Published: March 18, 2025

Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.

Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.

Journal: BMJ open

Published: January 24, 2025

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

Cardiac dysfunction and altered gene expression in acid ceramidase-deficient mice.

Journal: American journal of physiology. Heart and circulatory physiology

Published: December 12, 2024

Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.

Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.

Journal: Kidney international reports

Published: July 17, 2024

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses.

Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses.

Journal: Molecular genetics and metabolism

Published: June 25, 2024

Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats.

Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats.

Journal: Heliyon

Published: December 24, 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.

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.

Journal: Molecular genetics and metabolism

Published: June 04, 2023

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.

Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.

Journal: Molecular genetics and metabolism

Published: May 29, 2023

Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA.

Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA.

Journal: Molecular genetics and metabolism reports

Published: April 19, 2023

Showing 1-12 of 87

Last Updated: 09/26/2026