Results 251 to 260 of about 12,595,460 (288)
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Testing the uncertainty outcome hypothesis using data from second tier soccer in Ireland
Applied Economics Letters, 2016This study estimates a demand relationship for second tier soccer in Ireland to test the uncertainty outcome hypothesis (UOH). Using data from three recent playing seasons, the UOH is found to be upheld. In addition, well-determined effects for fixture quality, recent team performance and travel distance between the competing teams’ stadia are also ...
Farai Jena, Barry Reilly
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Amino Acids, 2012
The quantitative analysis of amino acids (AAs) in single dry blood spot (DBS) samples is an important issue for metabolic diseases as a second-tier test in newborn screening. An analytical method for quantifying underivatized AAs in DBS was developed by using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The sample preparation
Chunyan, Wang +5 more
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The quantitative analysis of amino acids (AAs) in single dry blood spot (DBS) samples is an important issue for metabolic diseases as a second-tier test in newborn screening. An analytical method for quantifying underivatized AAs in DBS was developed by using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS). The sample preparation
Chunyan, Wang +5 more
openaire +2 more sources
Genetics in Medicine
To review the performance and outcomes of a second-tier newborn screening test for Pompe disease.We followed our previously published screening approach that reduces false-positive results by incorporating creatine and creatinine levels and postanalytic tools in a second-tier test.We reviewed 1879 blood samples from neonates born in 11 states.
Ibrahim T. Khoja +12 more
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To review the performance and outcomes of a second-tier newborn screening test for Pompe disease.We followed our previously published screening approach that reduces false-positive results by incorporating creatine and creatinine levels and postanalytic tools in a second-tier test.We reviewed 1879 blood samples from neonates born in 11 states.
Ibrahim T. Khoja +12 more
openaire +2 more sources
European Journal of Medical Genetics, 2014
We describe here a 34 months child, practically asymptomatic which presented with high levels of free sialic acid in urine by biochemical detection in second-tier tests newborn screening and with two disease causing mutations in SLC17A5 gene. SLC17A5 mutation analysis showed p.Tyr306* previously described and the novel mutation p.Leu167Pro.
María L, Couce +6 more
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We describe here a 34 months child, practically asymptomatic which presented with high levels of free sialic acid in urine by biochemical detection in second-tier tests newborn screening and with two disease causing mutations in SLC17A5 gene. SLC17A5 mutation analysis showed p.Tyr306* previously described and the novel mutation p.Leu167Pro.
María L, Couce +6 more
openaire +2 more sources
Revista espanola de salud publica, 2021
Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families.
Sonia, Pajares García +8 more
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Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families.
Sonia, Pajares García +8 more
openaire +1 more source
Genetics in Medicine, 2011
: Bedside newborn hearing screening is highly successful in identifying deaf or hard-of-hearing infants. However, newborn hearing screening protocols have high loss to follow-up rates. We propose that bloodspot-based genetic testing for GJB2 alleles can provide a means for rapid confirmation in a subset of infants who fail bedside newborn hearing ...
Lisa A, Schimmenti +7 more
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: Bedside newborn hearing screening is highly successful in identifying deaf or hard-of-hearing infants. However, newborn hearing screening protocols have high loss to follow-up rates. We propose that bloodspot-based genetic testing for GJB2 alleles can provide a means for rapid confirmation in a subset of infants who fail bedside newborn hearing ...
Lisa A, Schimmenti +7 more
openaire +2 more sources
Second tier testing for newborn screening: The Michigan experience
Molecular Genetics and Metabolism, 2020Rachel Fisher +7 more
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CK-MM as a second-tier test for Pompe disease newborn screening
Molecular Genetics and Metabolism, 2023Lee An-Ju +3 more
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Next generation sequencing as second-tier test in newborn screening programs
2017Peer ...
Rodríguez, Jairo +3 more
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Impacts of leadership on corporate social responsibility management in multi-tier supply chains
European Journal of Operational Research, 2022Weihua Liu +2 more
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