Results 11 to 20 of about 12,595,460 (288)

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests [PDF]

BMC Medical Genetics, 2013
Background Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS.
Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu   +6 more
doaj   +3 more sources

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy [PDF]

International Journal of Neonatal Screening, 2019
The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases.
Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati, Alessandro P. Burlina   +7 more
doaj   +3 more sources

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Journal of Inborn Errors of Metabolism and Screening, 2016
Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates.
Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG   +5 more
doaj   +4 more sources

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2021
Abstract Context Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age–adjusted cutoffs. A second heel puncture (HP) is performed in newborns with inconclusive results to reduce false positives.
Stroek, K., Ruiter, A., van der Linde, A.A.A., Ackermans, M., Bouva, M.J., Engel, H., Jakobs, B., Kemper, E.A., van den Akker, E.L., van Albada, M.E., Bocca, G., Finken, M.J.J., Hannema, S.E., Houdijk, E.C., van de Kamp, H.J., van Tellingen, V., van Trotsenburg, A.S., Zwaveling-Soonawala, N., Bosch, A.M., de Jonge, R, Heijboer, A.C., Claahsen-van der Grinten, H.L., Claahsen-van der Grinten, H.L., Boelen, A.   +23 more
  +14 more sources

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +3 more sources

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

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

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

Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing. [PDF]

Int J Neonatal Screen
Newborn screening for congenital adrenal hyperplasia (CAH) is effective in identifying patients with severe forms before a potentially lethal crisis, but has a relatively high false-positive rate. The aim of this study was to improve the national neonatal screening program in Sweden and the positive predictive value by implementing LC-MS/MS second-tier
Engström K, Zetterström RH, Wedell A, Nordenström A.   +3 more
europepmc   +2 more sources