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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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
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

Internet

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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