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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Int J Neonatal Screen. 2020 Feb 7;6(1):10. doi: 10.3390/ijns6010010. eCollection 2020 Mar.
Int J Neonatal Screen. 2020.
PMID: 33073008
Free PMC article.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D.
Guenzel AJ, et al. Among authors: shallow nm.
Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24.
Genet Med. 2020.
PMID: 32089546
Free article.
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