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C Edmondson

Showing results (81-90 of 132) with videos related to

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Biomolecules|March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDGHamdan 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 GlycosylationRita 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-upRodrigo 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 communityPedro Granjo, Carlota Pascoal, Diana Gallego, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni 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 glycosylationDiederik 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 populationsMajken 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 synthesisRobert J Brown, Andrew C Edmondson, Nathalie Griffon, et al.
CNS Drugs|October 15, 2022
The Safety of Deutetrabenazine for Chorea in Huntington Disease: An Open-Label Extension StudySamuel Frank, Claudia Testa, Mary C Edmondson, et al.
Molecular Genetics and Metabolism|May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelinesRameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Pageof 14

Showing results (81-90 of 132) with videos related to

Sort By:
Pageof 14
Biomolecules|March 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDGHamdan 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 GlycosylationRita 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-upRodrigo 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 communityPedro Granjo, Carlota Pascoal, Diana Gallego, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni 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 glycosylationDiederik 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 populationsMajken 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 synthesisRobert J Brown, Andrew C Edmondson, Nathalie Griffon, et al.
CNS Drugs|October 15, 2022
The Safety of Deutetrabenazine for Chorea in Huntington Disease: An Open-Label Extension StudySamuel Frank, Claudia Testa, Mary C Edmondson, et al.
Molecular Genetics and Metabolism|May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelinesRameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Pageof 14