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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主要な著者:	Zackary Herbst, Coleman T. Turgeon, Chad Biski, Hamid Khaledi, Nancy B. Shoemaker, Patrick D. DeArmond, Sara Smith, Joseph Orsini, Dietrich Matern, Michael H. Gelb
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2020-03-01
シリーズ:	International Journal of Neonatal Screening
主題:	newborn screening biomarkers mass spectrometry Krabbe disease
オンライン･アクセス:	https://www.mdpi.com/2409-515X/6/2/29
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