Maria Fuller

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 16

Top Topics

Ultra High Performance Liquid Chromatography

Deep Brain Stimulation

Hypertrophic Cardiomyopathy

Top Venues

International journal of neonatal screening

Journal of inherited metabolic disease

Journal of neurochemistry

This page only lists publications with an associated author ORCID identifier.

Publications

Murtaza S Nagree, Jitka Rybova, Annie Kleynerman, Carissa J Ahrenhoerster, Jennifer T Saville, TianMeng Xu, Maxwell Bachochin, William M McKillop, Michael W Lawlor, Alexey V Pshezhetsky, Elena Isaeva, Matthew D Budde, Maria Fuller, Jeffrey A Medin
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency. Communications biology 6 (1) (2023)
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
Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. EMBO molecular medicine 14 (4) (2022)
Zackary M Herbst, Leslie Urdaneta, Terri L Klein, Barbara K Burton, Khaja Basheeruddin, Hsuan-Chieh Liao, Maria Fuller, Michael H Gelb
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II. International journal of neonatal screening 8 (1) (2022)
Maria Fuller, David Ketteridge
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. JIMD reports 60 (1) (2021)
Corey Markus, Suzette Coat, Hanns-Ulrich Marschall, Catherine Williamson, Peter H Dixon, Maria Fuller, Susan Matthews, Wayne Rankin, Michael Metz, William Bill Hague
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trial. Clinical chemistry and laboratory medicine 59 (12) (2021)
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
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning. International journal of neonatal screening 7 (2) (2021)
Jennifer T Saville, Maria Fuller
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory. Metabolites 11 (7) (2021)
Zackary M Herbst, Leslie Urdaneta, Terri Klein, Maria Fuller, Michael H Gelb
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. International journal of neonatal screening 6 (3) (2020)
Shoshana Revel-Vilk, Maria Fuller, Ari Zimran
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review. International journal of molecular sciences 21 (19) (2020)
Sharon J Chin, Jennifer T Saville, Belinda K McDermott, Andreas Zankl, Janice M Fletcher, Maria Fuller
Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA. JIMD reports 55 (1) (2020)
Zackary M Herbst, Leslie Urdaneta, Terri Klein, Maria Fuller, Michael H Gelb
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I. International journal of neonatal screening 6 (3) (2020)
Maria Fuller, Atul Mehta
Fabry cardiomyopathy: missing links from genotype to phenotype. Heart (British Cardiac Society) 106 (8) (2020)
Jennifer T Saville, Belinda K McDermott, Sharon J Chin, Janice M Fletcher, Maria Fuller
Expanding the clinical utility of glucosylsphingosine for Gaucher disease. Journal of inherited metabolic disease 43 (3) (2019)
Jennifer T Saville, Hong Ngoc Thai, Rebecca J Lehmann, Ainslie L K Derrick-Roberts, Maria Fuller
Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. Journal of neurochemistry 141 (2) (2017)
Sergio Rodriguez-Cuenca, Lauren Whyte, Rachel Hagen, Antonio Vidal-Puig, Maria Fuller
Stearoyl-CoA Desaturase 1 Is a Key Determinant of Membrane Lipid Composition in 3T3-L1 Adipocytes. PloS one 11 (9) (2016)
Raphael Schiffmann, Maria Fuller, Lorne A Clarke, Johannes M F G Aerts
Is it Fabry disease? Genetics in medicine : official journal of the American College of Medical Genetics 18 (12) (2016)