Results 11 to 20 of about 1,922,511 (410)
Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
International Journal of Neonatal Screening, 2021 The Philippine newborn bloodspot screening (NBS) program began in 1996 with 24 hospitals and was formalized by legislation in 2004. The NBS panel was recently expanded to include a number of additional hereditary congenital conditions.
Carmencita D. Padilla +15 more
doaj +1 more source
The Progress and Future of US Newborn Screening
International Journal of Neonatal Screening, 2022 Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and
Michael S Watson +2 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2022 A national protocol for structured follow-up and texting of repeat newborn bloodspot screening (NBS) sample requests was introduced. Repeat samples are needed where the initial sample is inadequate or the result borderline-positive.
Natasha Heather +5 more
doaj +1 more source
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Orphanet Journal of Rare Diseases, 2021 Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability.
K. Vill +16 more
semanticscholar +1 more source
International Journal of Neonatal Screening, 2021 Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Binod Kumar +6 more
doaj +1 more source
CMAJ Open, 2021 Background: Although pathogenic 22q11.2 deletions are an important cause of developmental delays and lifelong disease burden, their variable and complex clinical expression contributes to under-recognition, delayed molecular diagnosis and uncertainty ...
Christina Blagojevic +7 more
semanticscholar +1 more source
Newborn Screening Is on a Collision Course with Public Health Ethics
International Journal of Neonatal Screening, 2022 Newborn screening was established over 50 years ago to identify cases of disorders that were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner.
R. Currier
semanticscholar +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
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
International Journal of Neonatal Screening, 2022 Newborn bloodspot screening (NBS) began as a research project in the Philippines in 1996 and was mandated by law in 2004. The program initially included screening for five conditions, with a sixth added in 2012.
Carmencita D. Padilla +16 more
doaj +1 more source