Results 21 to 30 of about 13,071,153 (288)

Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis. [PDF]

Eur J Hum Genet, 2020
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before
Fleige T, Burggraf S, Czibere L, Häring J, Glück B, Keitel LM, Landt O, Harms E, Hohenfellner K, Durner J, Röschinger W, Becker M.   +11 more
europepmc   +4 more sources

Testing the uncertainty outcome hypothesis using data from second tier soccer in Ireland

Applied Economics Letters, 2016
This 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
core   +3 more sources

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

International Journal of Neonatal Screening, 2021
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow.
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen   +8 more
doaj   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Objective Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an inherited adrenal steroid synthesis disorder included in Dutch newborn screening (NBS) since 2002. Screening involves measuring 17-hydroxyprogesterone (17-OHP) in dried blood spots (DBS) with gestational age-adjusted cut-offs ...
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +5 more sources

Impact of Second-Tier Testing on the Effectiveness of Newborn Screening [PDF]

Clinical Chemistry, 2010
The goal of newborn screening (NBS)3 for inherited disorders of metabolism is the early detection and confirmation of disease, thus enabling early medical intervention, treatment, and improved outcomes (1). Important characteristics of a screening method include analytical specificity and sensitivity, coupled with rapid, high throughput and timely ...
W Harry Hannon, Donald H Chace
openaire   +1 more source

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand

International Journal of Neonatal Screening, 2022
Between 2005 and 2021, 49 cases of classical congenital adrenal hyperplasia were diagnosed in New Zealand, 39 were detected in newborns and 10 were not detected by screening. Currently, for every case of CAH detected by screening, 10 false-positive tests
Mark R. de Hora, Natasha L. Heather, Dianne R. Webster, Benjamin B. Albert, Paul L. Hofman   +4 more
doaj   +1 more source

Neonatal Screening: Identification of Children with 11β-Hydroxylase Deficiency by Second-Tier Testing [PDF]

Hormone Research in Paediatrics, 2012
<b><i>Background:</i></b> 21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.
Janzen, Nils, Riepe, Felix G, Peter, Michael, Sander, Stefanie, Steuerwald, Ulrike, Korsch, Eckhard, Krull, Friedrich, Müller, Hermann L, Heger, Sabine, Brack, Christoph, Sander, Johannes   +10 more
openaire   +3 more sources

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

Journal of Inborn Errors of Metabolism and Screening, 2021
Elevation of branched-chain amino acids (BCAAs) in biological fluids indicates a deficiency in the branched-chain ketoacid dehydrogenase complex, which causes maple syrup urine disease (MSUD).
K. Fuenzalida, A. Valiente, A. Faundez, P. Guerrero, V. Soto, M.J. Leal-Witt, J.F. Cabello, V. Cornejo   +7 more
doaj   +1 more source

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia [PDF]

Genetics in Medicine, 2019
Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP).We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried blood spots. Analytical and clinical performance was evaluated in 60 screen-
Peng, Gang, Shen, Peidong, Gandotra, Neeru, Le, Anthony, Fung, Eula, Jelliffe-Pawlowski, Laura, Davis, Ronald W., Enns, Gregory M., Zhao, Hongyu, Cowan, Tina M., Scharfe, Curt   +10 more
openaire   +2 more sources

Classification list of first-tier, quasi-first-tier, second-tier, and third-tier cities.

, 2023
Classification list of first-tier, quasi-first-tier, second-tier, and third-tier cities.
Zushun Cai (16979626), Guoju Ai (16979623), Lingyu Tang (11312232)   +2 more
core   +1 more source