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3 in total

1. Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Authors: Wei-Lien Chuang; Josh Pacheco; X Kate Zhang; Monica M Martin; Chad K Biski; Joan M Keutzer; David A Wenger; Michele Caggana; Joseph J Orsini
Journal: Clin Chim Acta Date: 2013-02-16 Impact factor: 3.786

2. Psychosine, a marker of Krabbe phenotype and treatment effect.

Authors: M L Escolar; B T Kiely; E Shawgo; X Hong; M H Gelb; J J Orsini; D Matern; M D Poe
Journal: Mol Genet Metab Date: 2017-05-22 Impact factor: 4.797

3. Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

Authors: Coleman T Turgeon; Joseph J Orsini; Karen A Sanders; Mark J Magera; Thomas J Langan; Maria L Escolar; Patricia Duffner; Devin Oglesbee; Dimitar Gavrilov; Silvia Tortorelli; Piero Rinaldo; Kimiyo Raymond; Dietrich Matern
Journal: J Inherit Metab Dis Date: 2015-03-12 Impact factor: 4.982

3 in total

2 in total

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

Authors: Zackary Herbst; Coleman T Turgeon; Chad Biski; Hamid Khaledi; Nancy B Shoemaker; Patrick D DeArmond; Sara Smith; Joseph Orsini; Dietrich Matern; Michael H Gelb
Journal: Int J Neonatal Screen Date: 2020-03-31

2. Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.

Authors: Zackary M Herbst; Leslie Urdaneta; Terri Klein; Maria Fuller; Michael H Gelb
Journal: Int J Neonatal Screen Date: 2020-08-26

2 in total