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Orphanet Journal of Rare Diseases
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September 24, 2020
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Trevor Kirby, Dana C Walters, Xutong Shi, et al.
Molecular Genetics and Metabolism
|
August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDG
Patrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism Reports
|
July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase
Coleman Turgeon, Kari Casas, Ryan Flanagan, et al.
Journal of Medical Genetics
|
July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shino Shimada, Bobby G Ng, Amy L White, et al.
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of 2
Search research articles
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Showing results (11-20 of 14) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 14 results.
Orphanet Journal of Rare Diseases
|
September 24, 2020
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency
Trevor Kirby, Dana C Walters, Xutong Shi, et al.
Molecular Genetics and Metabolism
|
August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDG
Patrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism Reports
|
July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase
Coleman Turgeon, Kari Casas, Ryan Flanagan, et al.
Journal of Medical Genetics
|
July 5, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shino Shimada, Bobby G Ng, Amy L White, et al.
Page
of 2