Results 51 to 60 of about 2,136,941 (364)
Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS
International Journal of Neonatal Screening, 2023 In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV).
Silje Hogner +5 more
doaj +1 more source
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
, 2021 Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of ...
Estrella, Elicia +12 more
core +1 more source
Annals of Hepatology, 2023 Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles ...
Mariela Solano-Vargas +5 more
doaj +1 more source
Expert Evaluation of Strategies to Modernize Newborn Screening in the United States
JAMA Network Open, 2021 Key Points Question What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life?
Don B Bailey +5 more
semanticscholar +1 more source
BMC Medicine, 2018 Understanding the long-term health impacts of the early-life exposome requires the characterization and assimilation of multi ‘omics’ data to ultimately link molecular changes to exposures.
Alicia DiBattista, Pranesh Chakraborty
doaj +1 more source
International Journal of Neonatal Screening, 2022 In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak +5 more
doaj +1 more source
The Role of Exome Sequencing in Newborn Screening for Inborn Errors of Metabolism
Nature Medicine, 2020 Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors ...
Aashish N. Adhikari +23 more
semanticscholar +1 more source
Newborn Screening for Congenital Hypothyroidism in Japan
International Journal of Neonatal Screening, 2021 Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment.
K. Minamitani
semanticscholar +1 more source
Pilot programs in newborn screening
, 2012 The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to ...
Sherwin, John +4 more
core +1 more source
Frontiers in Immunology, 2020 Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller +9 more
doaj +1 more source