Extreme hyperbilirubinemia can cause bilirubin neurotoxicity. Infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency can develop hemolysis and thus are at high risk. This peer-reviewed publication describes the evaluation of a device that quantitatively measures G6PD activity kinetically using digital microfluidics (DMF).
Validation and Implementation of Newborn Screening Assay for Mucopolysaccharidosis Type II
This peer-reviewed publication details the analytical validation, clinical validation, and implementation of a fluorometric assay for Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, at the Missouri State Public Health Laboratory, as published in the International Journal of Neonatal Screening (2020).
Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses
This peer-reviewed publication focuses on the development and practical experience of using digital microfluidic fluorometry (DMF) to screen newborns for MPS I in the USA, as published in the International Journal of Neonatal Screening (2020). Preliminary results of NBS for MPS II and MPS III using DMF are discussed.
Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses
This peer-reviewed publication describes the origins of laboratory assays for enzyme activity measurement, the maturation and clinical application of fluorescent enzyme assays for Mucopolysaccharidoses (MPS) newborn screening, and considerations for future expansion of the technology – as published in Diagnostics (2020).
G6PD Deficiency in the COVID-19 Pandemic
Sameer Al-Abdi discusses the relationship between COVID-19 and the 350 million people worldwide with glucose-6-phosphate dehydrogenase (G6PD) deficiency in a letter to the editor of Hematology/Oncology and Stem Cell Therapy (2020).
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
This peer-reviewed publication discusses the landscape and challenges in second tier DNA sequencing in newborn screening for Pompe disease, as published in the International Journal of Neonatal Screening (2020).
Lessons Learned from Pompe Disease Newborn Screening and Follow-up
This peer-reviewed publication presents an overview of six years of data from the Missouri State Public Health Laboratory for Pompe disease newborn screening and follow-up, as published in the International Journal of Neonatal Screening (2020).
Digital Microfluidic Platform to Maximize Diagnostic Tests with Low Sample Volumes from Newborns and Pediatric Patients
This peer-reviewed publication describes the development of a digital microfluidic testing platform and associated clinical assays purposely curated to address current shortcomings in pediatric laboratory testing by using microliter volumes of samples.
Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase (GALC) activity in dried blood spot specimens
This peer-reviewed publication describes the feasibility of performing a fluorimetric assay to measure galactocerebrosidase (GALC) enzyme activity in dried blood spots. Decreased GALC enzyme activity may be indicative of Krabbe disease.
Newborn Screening: Taiwanese Experience
As published in the Annals of Translational Medicine, this paper reviews newborn screening for Pompe disease in Taiwan from authors Yin-Hsiu Chien, Wuh-Liang Hwu, and Ni-Chung Lee.