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Orphanet Journal of Rare Diseases|November 6, 2025
Sphingolipids in Gaucher disease: a systematic reviewAshleigh Lake, Maria Fuller
The Clinical Biochemist. Reviews|June 11, 2020
Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to TreatmentMaria Fuller
Lipids in Health and Disease|October 13, 2010
Sphingolipids: the nexus between Gaucher disease and insulin resistanceMaria Fuller
JIMD Reports|July 14, 2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal settingMaria Fuller, David Ketteridge
BMJ Open|January 24, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective studyJasmina Markulić, Maria Fuller
Analytical Chemistry|April 14, 2010
High-spatial resolution matrix-assisted laser desorption ionization imaging analysis of glucosylceramide in spleen sections from a mouse model of Gaucher diseaseMarten F Snel, Maria Fuller
The Lancet Regional Health. Western Pacific|January 13, 2022
Prevalence of lysosomal storage disorders in Australia from 2009 to 2020Sharon J Chin, Maria Fuller
Biochemical and Biophysical Research Communications|March 11, 2018
The brain lipidome in neurodegenerative lysosomal storage disordersMaria Fuller, Anthony H Futerman
Molecular Genetics and Metabolism|September 9, 2019
Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIAJennifer T Saville, Maria Fuller
Metabolites|August 6, 2021
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic LaboratoryJennifer T Saville, Maria Fuller
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