E-LIB Suche - Ergebnisse für: Eklund, Erik G. A.

1

Physician's conceptions of the decision-making process when..:

Orfanos, Ioannis ; Lindkvist, Rose-Marie ; Eklund, Erik G. A....
BMC Pediatrics. 24 (2024) 1 - p. , 2024

2

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/..

3

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine. 25 (2023) 6 - p. 100828 , 2023

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

4

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine. 25 (2023) 6 - p. 100314 , 2023

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

5

The SwedishCOG6‐CDGexperience and a comprehensive literatur..:

Xia, Zhi‐Jie ; Ng, Bobby G. ; Jennions, Elizabeth...
JIMD Reports. 64 (2022) 1 - p. 79-89 , 2022

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

6

De novo DHDDS variants cause a neurodevelopmental and neuro..:

Galosi, Serena ; Edani, Ban H ; Martinelli, Simone...
Brain. 145 (2021) 1 - p. 208-223 , 2021

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

7

Predominant and novel de novo variants in 29 individuals wi..:

Ng, Bobby G. ; Eklund, Erik A. ; Shiryaev, Sergey A....
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1333-1348 , 2020

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

8

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinica..:

, In: JIMD Reports; JIMD Reports, Volume 44,

University of Washington Center for Mendelian Genomics ; Ng, Bobby G. ; Underhill, Hunter R.... - p. 85-92 , 2018

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

9

Three unreported cases of TMEM199-CDG, a rare genetic liver..:

Vajro, Pietro ; Zielinska, Katarzyna ; Ng, Bobby G....
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

10

ALG1-CDG: Clinical and Molecular Characterization of 39 Unr..:

Ng, Bobby G. ; Shiryaev, Sergey A. ; Rymen, Daisy...
Human Mutation. 37 (2016) 7 - p. 653-660 , 2016

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

11

Neurological Aspects of Human Glycosylation Disorders:

Freeze, Hudson H. ; Eklund, Erik A. ; Ng, Bobby G..
Annual Review of Neuroscience. 38 (2015) 1 - p. 105-125 , 2015

Link: https://doi.org/10.1146/..

12

Serum transferrin carrying the xeno‐tetrasaccharide NeuAc‐G..:

Bengtson, Per ; Ng, Bobby G. ; Jaeken, Jaak...
Journal of Inherited Metabolic Disease. 39 (2015) 1 - p. 107-114 , 2015

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

13

COG8 deficiency causes new congenital disorder of glycosyla..:

Kranz, Christian ; Ng, Bobby G. ; Sun, Liangwu...
Human Molecular Genetics. 16 (2007) 7 - p. 731-741 , 2007

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

14

Leg ulcer healing induced by prostaglandin E1 recorded with..:

Eklund, Anders-Erik ; Eriksson, Gunnel ; G. Olsson, Anders
Progress in Lipid Research. 20 (1981) - p. 479-484 , 1981

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

15

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F ; Mozer-Glassberg, Yael ; Landau, Yuval E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.015. , 2023

Link: https://repository.vu.lt..