E-LIB Suche - Ergebnisse für: Crawford, Brett E.

1

Galactokinase 1 is the source of elevated galactose‐1‐phosp..:

Mangini, Linley ; Lawrence, Roger ; Lopez, Manuel E....
JIMD Reports. 65 (2024) 4 - p. 280-294 , 2024

Link: https://doi.org/10.1002/..

2

Intracerebroventricular dosing of N-sulfoglucosamine sulfoh..:

Magat, Jenna ; Jones, Samantha ; Baridon, Brian...
Journal of Biological Chemistry. 298 (2022) 12 - p. 102625 , 2022

Link: https://doi.org/10.1016/..

3

AAV9-NGLY1 gene replacement therapy improves phenotypic and..:

Zhu, Lei ; Tan, Brandon ; Dwight, Selina S....
Molecular Therapy - Methods & Clinical Development. 27 (2022) - p. 259-271 , 2022

Link: https://doi.org/10.1016/..

4

GlcNAc-Asn is a biomarker for NGLY1 deficiency:

Mueller, William F ; Zhu, Lei ; Tan, Brandon...
The Journal of Biochemistry. 171 (2021) 2 - p. 177-186 , 2021

Link: https://doi.org/10.1093/..

5

Substrate reduction therapy for Krabbe disease and metachro..:

Babcock, Michael C. ; Mikulka, Christina R. ; Wang, Bing...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

6

Biochemical evaluation of intracerebroventricular rhNAGLU-I..:

Kan, Shih-hsin ; Elsharkawi, Ibrahim ; Le, Steven Q....
Molecular Genetics and Metabolism. 133 (2021) 2 - p. 185-192 , 2021

Link: https://doi.org/10.1016/..

7

Natural history study of glycan accumulation in large anima..:

Cavender, Catlyn ; Mangini, Linley ; Van Vleet, Jeremy L....
PLOS ONE. 15 (2020) 12 - p. e0243006 , 2020

Link: https://doi.org/10.1371/..

8

Central nervous system pathology in preclinical MPS IIIB do..:

Egeland, Martin T. ; Tarczyluk-Wells, Marta M. ; Asmar, Melissa M....
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

9

Intracerebroventricular enzyme replacement therapy with β-g..:

Chen, Joseph C. ; Luu, Amanda R. ; Wise, Nathan...
Journal of Biological Chemistry. 295 (2020) 39 - p. 13532-13555 , 2020

Link: https://doi.org/10.1074/..

10

Evaluation of non-reducing end pathologic glycosaminoglycan..:

Vera, Moin U. ; Le, Steven Q. ; Victoroff, Alla...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. 91-97 , 2020

Link: https://doi.org/10.1016/..

11

Translational studies of intravenous and intracerebroventri..:

Grover, Anita ; Crippen-Harmon, Danielle ; Nave, Lacey...
Drug Delivery and Translational Research. 10 (2020) 2 - p. 425-439 , 2020

Link: https://doi.org/10.1007/..

12

Characterization of disease-specific chondroitin sulfate no..:

Crawford, Brett E ; Pasquali, Marzia ; Burton, Barbara K...
Glycobiology. 30 (2020) 7 - p. 433-445 , 2020

Link: https://doi.org/10.1093/..

13

Genetic ablation of acid ceramidase in Krabbe disease confi..:

Li, Yedda ; Xu, Yue ; Benitez, Bruno A....
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 40 - p. 20097-20103 , 2019

Link: https://www.jstor.org/st..

14

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidas..:

Yogalingam, Gouri ; Luu, Amanda R. ; Prill, Heather...
PLOS ONE. 14 (2019) 1 - p. e0207836 , 2019

Link: https://doi.org/10.1371/..

15

Genetic ablation of acid ceramidase in Krabbe disease confi..:

Li, Yedda ; Xu, Yue ; Benitez, Bruno A....
Proceedings of the National Academy of Sciences. 116 (2019) 40 - p. 20097-20103 , 2019

Link: https://doi.org/10.1073/..