Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

Measurement of the absolute concentration of the biomarker psychosine in dried blood spots (DBS) is useful for diagnosis and prognosis of Krabbe disease and to support newborn screening of this leukodystrophy. As for assays for more common diseases, it is important to achieve congruence when multipl...

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Publié dans:Int J Neonatal Screen
Auteurs principaux: Herbst, Zackary, Turgeon, Coleman T., Biski, Chad, Khaledi, Hamid, Shoemaker, Nancy B., DeArmond, Patrick D., Smith, Sara, Orsini, Joseph, Matern, Dietrich, Gelb, Michael H.
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7199469/
https://ncbi.nlm.nih.gov/pubmed/32373753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020029
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