E-LIB Suche - Ergebnisse für: Freeze, Hudson H

1

Clinical and biochemical footprints of congenital disorders..:

Ng, Bobby G. ; Freeze, Hudson H. ; Himmelreich, Nastassja..
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108476 , 2024

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

2

A complement C4–derived glycopeptide is a biomarker for PMM..:

Garapati, Kishore ; Budhraja, Rohit ; Saraswat, Mayank...
JCI Insight. 9 (2024) 7 - p. , 2024

Link: https://doi.org/10.1172/..

3

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Upd..:

Shah, Rameen ; Eklund, Erik A. ; Radenkovic, Silvia...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108472 , 2024

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

4

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/..

5

Beyond genetics: Deciphering the impact of missense variant..:

del Caño‐Ochoa, Francisco ; Ng, Bobby G. ; Rubio‐del‐Campo, Antonio...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1170-1185 , 2023

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

6

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine l..:

Dang Do, An N. ; Chang, Irene J. ; Jiang, Xutian...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 326-334 , 2023

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

7

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/..

8

Biallelic missense variants in COG3 cause a congenital diso..:

Duan, Ruizhi ; Marafi, Dana ; Xia, Zhi‐Jie...
Journal of Inherited Metabolic Disease. 46 (2023) 6 - p. 1195-1205 , 2023

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

9

Metabolic clogging of mannose triggers dNTP loss and genomi..:

Harada, Yoichiro ; Mizote, Yu ; Suzuki, Takehiro...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

10

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/..

11

GLUT1 is a highly efficient L-fucose transporter:

Ng, Bobby G. ; Sosicka, Paulina ; Xia, Zhijie.
Journal of Biological Chemistry. 299 (2023) 1 - p. 102738 , 2023

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

12

CDG or not CDG:

Freeze, Hudson H. ; Jaeken, Jaak ; Matthijs, Gert
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 383-385 , 2022

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

13

Comparative proteomics reveals elevated CCN2 in NGLY1-defic..:

Hetz, Rebecca ; Magaway, Carlo ; Everett, Jaylene...
Biochemical and Biophysical Research Communications. 632 (2022) - p. 165-172 , 2022

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

14

Uridine monophosphate (UMP)-responsive developmental and ep..:

Al-Otaibi, Ali ; AlAyed, Alaa ; Al Madhi, Asma...
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100835 , 2022

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/..