- Obituary
1 Citations
2,819 Views
2 Pages
Zoltan Lukacs Passed Away
- Joseph Orsini,
- Michael Gelb and
- Peter C. J. I. Schielen
It is with great sadness that we have to inform you of the passing on 13 August 2020, of Dr [...]
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International Journal of Neonatal Screening, Volume 6, Issue 4
December 2020 - 21 articles
Cover Story: Dr. Lorey was a strong advocate for newborn screening and in his honor, we recognize that his seminal contributions undoubtedly have improved the quality of life of countless newborns and their families nationally and internationally. He worked with many family organizations, such as Save Babies Through Screening Foundation, to create and translate the tools needed to realize the promise of early diagnosis and treatment to save newborn lives (The photo courtesy of Dr. Lorey's family). View this paper
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Articles (21)
- Article
14 Citations
4,429 Views
13 Pages
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism
- Willemijn J. van Rijt,
- Peter C. J. I. Schielen,
- Yasemin Özer,
- Klaas Bijsterveld,
- Fjodor H. van der Sluijs,
- Terry G. J. Derks and
- M. Rebecca Heiner-Fokkema
Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inborn errors of metabolism, and for validation studies for newborn blood spot screening programs. Acylcarnitine species are subject to degradation upon lo...
- Review
45 Citations
8,998 Views
16 Pages
Development of Strategies to Decrease False Positive Results in Newborn Screening
- Sabrina Malvagia,
- Giulia Forni,
- Daniela Ombrone and
- Giancarlo la Marca
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. New technological...
- Article
16 Citations
4,992 Views
14 Pages
Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
- Vincenza Gragnaniello,
- Daniela Gueraldi,
- Laura Rubert,
- Francesca Manzoni,
- Chiara Cazzorla,
- Antonella Giuliani,
- Giulia Polo,
- Leonardo Salviati and
- Alberto Burlina
Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 yea...
- Review
17 Citations
5,114 Views
19 Pages
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia
- Scott D. Grosse and
- Guy Van Vliet
Generalizing about the cost-effectiveness of newborn screening (NBS) is difficult due to the heterogeneity of disorders included in NBS panels, along with data limitations. Furthermore, it is unclear to what extent evidence about cost-effectiveness s...
- Article
26 Citations
3,428 Views
8 Pages
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns
- Patricia L. Hall,
- Hong Li,
- Arthur F. Hagar,
- S. Caleb Jerris,
- Angela Wittenauer and
- William Wilcox
We screened 51,081 newborns for X-linked adrenoleukodystrophy (ALD) using a two-tiered strategy quantifying very long chain lysophosphatadylcholines (LPC). Our testing strategy used flow injection tandem mass spectrometry for the first-tier analysis...
- Review
26 Citations
4,848 Views
12 Pages
Translating Molecular Technologies into Routine Newborn Screening Practice
- Sarah M. Furnier,
- Maureen S. Durkin and
- Mei W. Baker
As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), a...
- Article
14 Citations
4,649 Views
13 Pages
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II
- Heather Bilyeu,
- Jon Washburn,
- Lacey Vermette and
- Tracy Klug
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a lysosomal storage disorder (LSD) caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). MPS II satisfies all criteria defined by the Advisory Committee o...
- Review
27 Citations
5,197 Views
12 Pages
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
- Tania Vasquez-Loarte,
- John D. Thompson and
- J. Lawrence Merritt
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (...
- Review
12 Citations
3,760 Views
11 Pages
Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report
- Jon Washburn and
- David S. Millington
Newborn screening (NBS) for mucopolysaccharidosis type I (MPS I, Hurler syndrome) is currently conducted in about two-fifths of the NBS programs in the United States and in a few other countries. Screening is performed by measurement of residual acti...
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Int. J. Neonatal Screen. - ISSN 2409-515X