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Molecular Genetics and Metabolism|March 8, 2018
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulasHong Li, Heather M Byers, Alicia Diaz-Kuan, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
International Journal of Neonatal Screening|April 24, 2026
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-IZinandré Stander, Amy L White, Matthew Lynch, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, 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 diseaseIbrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
Clinical Chemistry|March 12, 2015
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervalsLars Mørkrid, Alexander D Rowe, Katja B P Elgstoen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.
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.
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