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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...
Autores principales: | Herbst, Zackary, Turgeon, Coleman T., Biski, Chad, Khaledi, Hamid, Shoemaker, Nancy B., DeArmond, Patrick D., Smith, Sara, Orsini, Joseph, Matern, Dietrich, Gelb, Michael H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199469/ https://www.ncbi.nlm.nih.gov/pubmed/32373753 http://dx.doi.org/10.3390/ijns6020029 |
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