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Saville, Jennifer T.
210  Ergebnisse:
Personensuche X
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1

A multiplex lipid platform improves the laboratory diagnosi..:

Fuller, Maria ; Saville, Jennifer T.
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107830 , 2024
Link: https://doi.org/10.1016/..
 
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2

GLA-modified RNA treatment lowers GB3 levels in iPSC-derive..:

ter Huurne, Menno ; Parker, Benjamin L. ; Liu, Ning Qing...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1600-1605 , 2023
Link: https://doi.org/10.1016/..
 
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3

Endogenous, non-reducing end glycosaminoglycan biomarkers f..:

Saville, Jennifer T. ; Herbst, Zackary M. ; Gelb, Michael H..
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107685 , 2023
Link: https://doi.org/10.1016/..
 
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4

Spinal muscular atrophy-like phenotype in a mouse model of ..:

Nagree, Murtaza S. ; Rybova, Jitka ; Kleynerman, Annie...
Communications Biology.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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5

Elevation of gangliosides in four brain regions from Parkin..:

Blumenreich, Shani ; Nehushtan, Tamar ; Barav, Or B....
npj Parkinson's Disease.  8 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

The long and the short of Huntington's disease: how the sph..:

Phillips, Gabrielle R. ; Saville, Jennifer T. ; Hancock, Sarah E....
Brain Communications.  4 (2021)  1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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7

Impaired neural differentiation of MPS IIIA patient induced..:

Lehmann, Rebecca J. ; Jolly, Lachlan A. ; Johnson, Brett V....
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100811 , 2021
Link: https://doi.org/10.1016/..
 
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8

Experience with the Urinary Tetrasaccharide Metabolite for ..:

Saville, Jennifer T. ; Fuller, Maria
Metabolites.  11 (2021)  7 - p. 446 , 2021
Link: https://doi.org/10.3390/..
 
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9

Chondroitin sulfate disaccharide is a specific and sensitiv..:

Chin, Sharon J. ; Saville, Jennifer T. ; McDermott, Belinda K....
JIMD Reports.  55 (2020)  1 - p. 68-74 , 2020
Link: https://doi.org/10.1002/..
 
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10

Sphingolipid dyshomeostasis in the brain of the mouse model..:

Saville, Jennifer T. ; Fuller, Maria
Molecular Genetics and Metabolism.  129 (2020)  2 - p. 111-116 , 2020
Link: https://doi.org/10.1016/..
 
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11

Expanding the clinical utility of glucosylsphingosine for G..:

Saville, Jennifer T. ; McDermott, Belinda K. ; Chin, Sharon J...
Journal of Inherited Metabolic Disease.  43 (2019)  3 - p. 558-563 , 2019
Link: https://doi.org/10.1002/..
 
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12

Disease and subtype specific signatures enable precise diag..:

Saville, Jennifer T. ; McDermott, Belinda K. ; Fletcher, Janice M..
Genetics in Medicine.  21 (2019)  3 - p. 753-757 , 2019
Link: https://doi.org/10.1038/..
 
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13

Evaluation of biomarkers for Sanfilippo syndrome:

Saville, Jennifer T. ; Flanigan, Kevin M. ; Truxal, Kristen V...
Molecular Genetics and Metabolism.  128 (2019)  1-2 - p. 68-74 , 2019
Link: https://doi.org/10.1016/..
 
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14

Glycosaminoglycan fragments as a measure of disease burden ..:

Saville, Jennifer T. ; McDermott, Belinda K. ; Fuller, Maria
Molecular Genetics and Metabolism.  123 (2018)  2 - p. 112-117 , 2018
Link: https://doi.org/10.1016/..
 
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15

Mass spectrometry-directed structure elucidation and total ..:

Hancock, Sarah E. ; Ailuri, Ramesh ; Marshall, David L....
Journal of Lipid Research.  59 (2018)  8 - p. 1510-1518 , 2018
Link: https://doi.org/10.1194/..
 
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