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Molecular Genetics and Metabolism
|
November 1, 2025
Clinical utility of untargeted urine oligosaccharide screening
Gisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease
Ibrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, 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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Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
Molecular Genetics and Metabolism
|
November 1, 2025
Clinical utility of untargeted urine oligosaccharide screening
Gisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease
Ibrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
International Journal of Neonatal Screening
|
October 19, 2020
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S Peck, Jean M Lacey, Amy L White, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Neurology
|
November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, 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