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Journal of Inherited Metabolic Disease
|
April 10, 2024
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, et al.
Molecular Genetics and Metabolism
|
February 9, 2025
Causes of mortality in the congenital disorders of glycosylation
Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
A human case of SLC35A3-related skeletal dysplasia
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, et al.
Neurobiology of Disease
|
November 16, 2020
X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder
Barbara Terzic, Yue Cui, Andrew C Edmondson, et al.
Molecular Genetics and Genomics : MGG
|
March 4, 2005
Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana
Andrew C Edmondson, Daqing Song, Luis A Alvarez, et al.
Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, et al.
Biomolecules
|
March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
International Journal of Environmental Research and Public Health
|
June 10, 2022
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
Rita Francisco, Sandra Brasil, Carlota Pascoal, et al.
Orphanet Journal of Rare Diseases
|
January 8, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2024
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Pedro Granjo, Carlota Pascoal, Diana Gallego, et al.
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of 8
Search research articles
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Showing results (21-30 of 73) with videos related to
Sort By:
Page
of 8
Journal of Inherited Metabolic Disease
|
April 10, 2024
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG
Earnest J P Daniel, Andrew C Edmondson, Yair Argon, et al.
Molecular Genetics and Metabolism
|
February 9, 2025
Causes of mortality in the congenital disorders of glycosylation
Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2017
A human case of SLC35A3-related skeletal dysplasia
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, et al.
Neurobiology of Disease
|
November 16, 2020
X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder
Barbara Terzic, Yue Cui, Andrew C Edmondson, et al.
Molecular Genetics and Genomics : MGG
|
March 4, 2005
Characterization of a mitochondrially targeted single-stranded DNA-binding protein in Arabidopsis thaliana
Andrew C Edmondson, Daqing Song, Luis A Alvarez, et al.
Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, et al.
Biomolecules
|
March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, et al.
International Journal of Environmental Research and Public Health
|
June 10, 2022
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
Rita Francisco, Sandra Brasil, Carlota Pascoal, et al.
Orphanet Journal of Rare Diseases
|
January 8, 2021
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2024
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Pedro Granjo, Carlota Pascoal, Diana Gallego, et al.
Page
of 8