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Molecular Genetics and Metabolism
|
June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation
Roni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
May 24, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
Diederik De Graef, Anna N Ligezka, Joseph Rezents, et al.
European Heart Journal
|
May 5, 2009
The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations
Majken K Jensen, Eric B Rimm, Kenneth J Mukamal, et al.
Journal of Lipid Research
|
May 5, 2009
A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis
Robert J Brown, Andrew C Edmondson, Nathalie Griffon, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers
Rodrigo T Starosta, Miao He, Sara Gracie, et al.
Plos Genetics
|
December 17, 2011
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
Sumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Molecular Genetics and Metabolism
|
March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes
Sanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Frontiers in Genetics
|
February 4, 2012
Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation
Kai Wang, Andrew C Edmondson, Mingyao Li, et al.
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Search research articles
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Showing results (31-40 of 73) with videos related to
Sort By:
Page
of 8
Molecular Genetics and Metabolism
|
June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation
Roni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
May 24, 2023
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation
Diederik De Graef, Anna N Ligezka, Joseph Rezents, et al.
European Heart Journal
|
May 5, 2009
The T111I variant in the endothelial lipase gene and risk of coronary heart disease in three independent populations
Majken K Jensen, Eric B Rimm, Kenneth J Mukamal, et al.
Journal of Lipid Research
|
May 5, 2009
A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis
Robert J Brown, Andrew C Edmondson, Nathalie Griffon, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers
Rodrigo T Starosta, Miao He, Sara Gracie, et al.
Plos Genetics
|
December 17, 2011
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol
Sumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Molecular Genetics and Metabolism
|
March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes
Sanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Frontiers in Genetics
|
February 4, 2012
Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation
Kai Wang, Andrew C Edmondson, Mingyao Li, et al.
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of 8