Results 21 to 30 of about 1,922,511 (410)
Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
International Journal of Neonatal Screening, 2022 Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Natasha Heather +5 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates.
A. Woerner +3 more
semanticscholar +1 more source
Principles of Genomic Newborn Screening Programs
JAMA Network Open, 2021 Key Points Question Based on current evidence, how should a genomic newborn screening (gNBS) program be designed and implemented? Findings This systematic review identified 36 relevant articles to inform important points to consider in the design of a ...
Lilian Downie +3 more
semanticscholar +1 more source
Next-Generation Sequencing in Newborn Screening: A Review of Current State
Frontiers in Genetics, 2021 Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened required
Ž. I. Remec +7 more
semanticscholar +1 more source
Newborn screening in mucopolysaccharidoses [PDF]
Italian Journal of Pediatrics, 2018 Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in
Donati, Maria Alice +4 more
openaire +5 more sources
International Journal of Neonatal Screening, 2023 Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early ...
Birgit Odenwald +4 more
doaj +1 more source
Newborn screening for galactosaemia [PDF]
Cochrane Database of Systematic Reviews, 2016 Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced.
Majid Davari +4 more
openaire +5 more sources
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
International Journal of Neonatal Screening, 2021 X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder.
Jamie Matteson +5 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2020 Newborn Bloodspot Screening (NBS) has existed for over 60 years, having been initiated by Guthrie in the U.S. In the Philippines, NBS was introduced in 1996 and later was supported by legislation. The NBS program now includes 29 conditions, covering 91.6%
Carmencita D. Padilla +9 more
doaj +1 more source