E-LIB Suche - Ergebnisse für: Daniel, Earnest

1

ALG8-CDG: new insights into an ultra-rare CDG:

Albokhari, Daniah ; Ng, Bobby ; Daniel, Earnest...
Molecular Genetics and Metabolism. 132 (2021) - p. S31-S32 , 2021

2

Deficient glycan extension and endoplasmic reticulum stress..:

Daniel, Earnest J. P. ; Edmondson, Andrew C. ; Argon, Yair...
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 766-777 , 2024

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

3

ALG13 X‐linked intellectual disability: New variants, glyco..:

Alsharhan, Hind ; He, Miao ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 1001-1012 , 2021

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

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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..

15

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/..