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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.
Medrxiv : the Preprint Server for Health Sciences|March 13, 2023
Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomasCecile Riviere-Cazaux, Jean M Lacey, Lucas P Carlstrom, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Cerebrospinal fluid D-2-hydroxyglutarate for IDH-mutant glioma: utility for detection versus monitoringCecile Riviere-Cazaux, Yuta Suzuki, Zain Kizilbash, et al.
Neuro-Oncology Advances|March 19, 2026
Cerebrospinal fluid D-2-hydroxyglutarate for IDH-mutant glioma monitoringCecile Riviere-Cazaux, Yuta Suzuki, Zain Kizilbash, 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff valuesGregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative projectDavid M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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