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Molecular Genetics & Genomic Medicine
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November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Ramanath Majumdar, Andrew Yori, Peggy W Rush, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive results
Patricia L Hall, Amy L White, Dawn Peck, et al.
Molecular Genetics and Metabolism
|
March 26, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
Karen Sanders, Dawn Peck, Gisele Bentz Pino, et al.
Clinical Chemistry
|
July 11, 2013
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood
Devin Oglesbee, Charles Kroll, Oleksandr Gakh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
Matthew J Schultz, Patricia L Hall, Gisele Bentz Pino, 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.
International Journal of Neonatal Screening
|
August 18, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
Aashish N Adhikari, Robert J Currier, Hao Tang, et al.
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Search research articles
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Showing results (11-20 of 28) with videos related to
Sort By:
Page
of 3
Molecular Genetics & Genomic Medicine
|
November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Ramanath Majumdar, Andrew Yori, Peggy W Rush, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive results
Patricia L Hall, Amy L White, Dawn Peck, et al.
Molecular Genetics and Metabolism
|
March 26, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
Karen Sanders, Dawn Peck, Gisele Bentz Pino, et al.
Clinical Chemistry
|
July 11, 2013
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood
Devin Oglesbee, Charles Kroll, Oleksandr Gakh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
Matthew J Schultz, Patricia L Hall, Gisele Bentz Pino, 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.
International Journal of Neonatal Screening
|
August 18, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing
Aashish N Adhikari, Robert J Currier, Hao Tang, et al.
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of 3