Results 41 to 50 of about 3,396,540 (313)
International Journal of Neonatal ScreeningNewborn screening for cystic fibrosis (CF) has been universal in the US since 2010; however, there is significant variation among newborn screening algorithms.
M. McGarry +16 more
semanticscholar +1 more source
JAMA pediatricsImportance There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms.
O. Schwartz +40 more
semanticscholar +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
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
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
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
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Journal of the American Medical Association (JAMA)Importance The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic groups is not well understood.
Alban Ziegler +49 more
semanticscholar +1 more source
Cystic fibrosis newborn screening: using experience to optimize the screening algorithm
, 2012 Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT ...
Dorkin, Henry L. +8 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
Newborn screening programs for spinal muscular atrophy worldwide in 2023
Journal of Neuromuscular DiseasesBackground Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular ...
Eva Vrscaj +3 more
semanticscholar +1 more source