Search Results - Maria Fuller

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  1. 1

    Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study by Maria Fuller, Jasmina Markulić

    Published in BMJ Open (2025-01-01)
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  2. 2

    Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory by Jennifer T. Saville, Maria Fuller

    Published in Metabolites (2021-07-01)
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  3. 3

    Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA by Kleopatra Pericleous, Chantelle McIntyre, Maria Fuller

    Published in Molecular Genetics and Metabolism Reports (2023-09-01)
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  4. 4

    Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 Adipocytes. by Sergio Rodriguez-Cuenca, Lauren Whyte, Rachel Hagen, Antonio Vidal-Puig, Maria Fuller

    Published in PLoS ONE (2016-01-01)
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  5. 5

    Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I by Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Maria Fuller, Michael H. Gelb

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  6. 6

    Mutation-Specific Cardiomyocyte Lines from Patients with Fabry Disease: A Sustainable In Vitro Model to Investigate Structure, Function, and Disease Mechanisms by Kathleen Nicholls, Andrea Wise, David Elliot, Menno ter Huurne, Maria Fuller, Sharon Ricardo

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  7. 7

    Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA by Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller

    Published in JIMD Reports (2020-09-01)
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  8. 8

    Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation by Shani Blumenreich, Tamar Nehushtan, Or B. Barav, Jennifer T. Saville, Tamir Dingjan, John Hardy, Maria Fuller, Anthony H. Futerman

    Published in npj Parkinson's Disease (2022-08-01)
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  9. 9

    Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II by Zackary M. Herbst, Leslie Urdaneta, Terri Klein, Barbara K. Burton, Khaja Basheeruddin, Hsuan-Chieh Liao, Maria Fuller, Michael H. Gelb

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  10. 10

    Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders by Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, S Ronan Foley, Maria Fuller, Daniel H Fowler, Jeffrey A Medin

    Published in EMBO Molecular Medicine (2022-03-01)
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  11. 11

    Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning by Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam

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  12. 12

    The prevalence of Fabry disease in a statewide chronic kidney disease cohort – Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study by Andrew Mallett, Phoebe Jane Kearey, Anne Cameron, Helen G. Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Louise Stark, Maria Fuller, Zaimin Wang, Wendy E. Hoy

    Published in BMC Nephrology (2022-05-01)
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  13. 13

    Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology by Andrea F. Wise, IGAA Ari Krisnadevi, Shoni Bruell, Han-Chung Lee, Tejasvini Bhuvan, Andrew J. Kassianos, Sheetal Saini, Xiangju Wang, Helen G. Healy, Elizabeth Ling Qian, David A. Elliot, Joel R Steele, Maria Fuller, Kathleen M. Nicholls, Sharon D. Ricardo

    Published in Kidney International Reports (2025-02-01)
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  14. 14

    Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. by Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin

    Published in PLoS ONE (2013-01-01)
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  15. 15

    Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses by Emily N. Barker, Mehrafarin Ashiri, Jennifer T. Saville, Richard Hemming, Nikolas Furletti, Shreya H. Dhume, Shirley Yu, Elaine Anjos, Xiaoli Wu, Agnes Fresnoza, David C. Merz, Mike Jackson, Marc R. Del Bigio, Tabrez J. Siddiqui, Maria Fuller, Brian L. Mark, Barbara Triggs-Raine

    Published in Biology Open (2025-09-01)
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  16. 16

    Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats by Alberto Camacho-Morales, Lilia G. Noriega, Adriana Sánchez-García, Ivan Torre-Villalvazo, Natalia Vázquez-Manjarrez, Roger Maldonado-Ruiz, Marcela Cárdenas-Tueme, Mariana Villegas-Romero, Itzayana Alamilla-Martínez, Humberto Rodriguez-Rocha, Aracely Garcia-Garcia, Juan Carlos Corona, Armando R. Tovar, Jennifer Saville, Maria Fuller, José Gerardo Gonzalez-Gonzalez, Ana María Rivas-Estilla

    Published in Heliyon (2024-10-01)
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