E-LIB Suche - Ergebnisse für: Daniel, Earnest James Paul

1

D-mannose as a new therapy for fucokinase deficiency-relate..:

Starosta, Rodrigo Tzovenos ; Lee, Angela J. ; Toolan, Elizabeth R....
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108488 , 2024

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

2

Case report: Novel genotype of ALG2-CDG and confirmation of..:

Martínez Duncker, Ivan ; Mata-Salgado, Denisse ; Shammas, Ibrahim...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

Fractionated plasma N‐glycan profiling of novel cohort of A..:

Alharbi, Hana ; Daniel, Earnest James Paul ; Thies, Jenny...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 300-312 , 2023

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

4

DDOST‐CDG: Clinical and molecular characterization of a thi..:

Elsharkawi, Ibrahim ; Wongkittichote, Parith ; Daniel, Earnest James Paul...
Journal of Inherited Metabolic Disease. 46 (2022) 1 - p. 92-100 , 2022

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

5

ALG8‐CDG: Molecular and phenotypic expansion suggests clini..:

Albokhari, Daniah ; Ng, Bobby G. ; Guberinic, Alis...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 969-980 , 2022

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

6

Expanding the phenotype, genotype and biochemical knowledge..:

Alsharhan, Hind ; Ng, Bobby G. ; Daniel, Earnest James Paul...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 987-1000 , 2021

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

7

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative ..:

González-Domínguez, Carlos Alberto ; Fiesco-Roa, Moisés O. ; Gómez-Carmona, Samuel...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

ALG1-CDG Caused by Non-functional Alternative Splicing Invo..:

González-Domínguez, Carlos Alberto ; Fiesco-Roa, Moisés O. ; Gómez-Carmona, Samuel...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

Ser and Thr acceptor preferences of the GalNAc-Ts vary amon..:

Daniel, Earnest James Paul ; las Rivas, Matilde ; Lira-Navarrete, Erandi...
Glycobiology. 30 (2020) 11 - p. 910-922 , 2020

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

10

The structure of the colorectal cancer-associated enzyme Ga..:

Fernandez, Amy J. ; Daniel, Earnest James Paul ; Mahajan, Sai Pooja...
Proceedings of the National Academy of Sciences. 116 (2019) 41 - p. 20404-20410 , 2019

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

11

The structure of the colorectal cancer-associated enzyme Ga..:

Fernandez, Amy J. ; Daniel, Earnest James Paul ; Mahajan, Sai Pooja...
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 41 - p. 20404-20410 , 2019

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

12

The interdomain flexible linker of the polypeptide GalNAc t..:

de las Rivas, Matilde ; Lira-Navarrete, Erandi ; Daniel, Earnest James Paul...
Nature Communications. 8 (2017) 1 - p. , 2017

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

13

Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) is..:

Ballard, Collin J ; Paserba, Miya R ; Paul Daniel, Earnest James..
Glycobiology. , 2023

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

14

O05: Fractionated plasma N-glycan analysis identifies sensi..:

Paul Daniel, Earnest James ; Edmondson, Andrew ; Morava-Kozicz, Eva..
Genetics in Medicine Open. 1 (2023) 1 - p. 100006 , 2023

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

15

COG4 mutation in Saul-Wilson syndrome selectively affects s..:

Xia, Zhi-Jie ; Mahajan, Sonal ; Paul Daniel, Earnest James...
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..