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Scientific Reports|May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and durationRachel Wurth, Coleman Turgeon, Jean Lacey, et al.
Molecular Genetics and Metabolism|February 2, 2006
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type IMark J Magera, Nishantha D Gunawardena, Si Houn Hahn, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduriaRamanath Majumdar, Andrew Yori, Peggy W Rush, et al.
Clinical Chemistry|January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
International Journal of Neonatal Screening|August 31, 2019
Newborn Screening for X-Linked AdrenoleukodystrophyAnn B Moser, Richard O Jones, Walter C Hubbard, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn ScreeningNoemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism|May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencingEmily H Smith, Cheryl Thomas, David McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive resultsPatricia L Hall, Amy L White, Dawn Peck, et al.
Molecular Genetics and Metabolism|October 31, 2020
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemiaOlivia Wenger, Miraides Brown, Brandon Smith, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
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