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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.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.Nature Genetics|August 16, 2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan, Jennifer J Johnston, Irini Manoli, et al.Mayo Clinic Proceedings|March 6, 2016
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic ExperienceKonstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, et al.Human Mutation|July 12, 2016
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular CarcinomaPatrick R Blackburn, Raymond D Hickey, Rebecca A Nace, 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.Pageof 6