Showing results (151-160 of 165) with videos related to
Sort By:
Pageof 17
International Journal of Neonatal Screening|August 18, 2020
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage DisordersKaren A Sanders, Dimitar K Gavrilov, Devin Oglesbee, et al.American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, 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 IDawn S Peck, Jean M Lacey, Amy L White, et al.Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.International Journal of Neonatal Screening|December 22, 2022
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening LaboratoriesMichael H Gelb, Khaja Basheeruddin, Alberto Burlina, 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 diseaseAdam 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 NeuropathyJordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.Mayo Clinic Proceedings|May 7, 2021
Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical CenterRickey E Carter, Elitza S Theel, Laura E Breeher, et al.Frontiers in Medicine|January 2, 2025
Melanoma toolkit for early detection for primary care clinicians: a 1-year follow-up on outcomesKyra Diehl, Elizabeth Stoos, Alyssa Becker, et al.Pageof 17