Results 41 to 50 of about 2,136,941 (364)
International Journal of Neonatal Screening, 2021 Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017.
Khaja Basheeruddin +4 more
doaj +1 more source
Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study
International Journal of Neonatal Screening, 2022 India, a country with the second largest population in the world, does not have a national newborn screening programme as part of its health policy.
Arya Raveendran +11 more
semanticscholar +1 more source
SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba
Journal of Inborn Errors of Metabolism and Screening, 2016 The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD +12 more
doaj +1 more source
Development of Strategies to Decrease False Positive Results in Newborn Screening
International Journal of Neonatal Screening, 2020 The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants.
Sabrina Malvagia +3 more
doaj +1 more source
Journal of Laboratory Medicine, 2021 Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung +5 more
doaj +1 more source
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
International Journal of Neonatal Screening, 2022 X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes.
J. Priestley +11 more
semanticscholar +1 more source
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
International Journal of Neonatal Screening, 2022 Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States.
Michael J Hartnett +10 more
semanticscholar +1 more source
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
International Journal of Neonatal Screening, 2021 Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment.
Kshea Hale, Jelili Ojodu, Sikha Singh
semanticscholar +1 more source
Scientific Reports, 2021 Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang +11 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2020 The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Mark R de Hora +5 more
doaj +1 more source