Results 21 to 30 of about 12,595,460 (288)
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 +10 more
openaire +2 more sources
Graz Reading Comprehension Test
, 2023 Der GraLeV ist ein Verfahren zur Messung des Leseverständnisses (auf Wort-, Satz- und Textebene) von Kindern der dritten und vierten Schulstufe. Er besteht aus 4 Subtests mit insgesamt 38 Itemsets. Der GraLeV weist eine interne Konsistenz von Cronbachs α
Riedl, S. +4 more
core +1 more source
, 2023 This is a sample submission generated by Vireo to test the repository deposit ...
Submitter, Test
core +3 more sources
Improving Lyme disease testing with data driven test design in pediatrics
Journal of Pathology Informatics, 2023 Diagnostic advances have not kept pace with the expansion of Lyme disease caused by Borrelia burgdorferi and transmitted by ticks. Lyme disease clinical manifestations can overlap with many other diagnoses making Lyme disease a critical part of many ...
Mahmoud Elkhadrawi +3 more
doaj +1 more source
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I [PDF]
International Journal of Neonatal Screening, 2020 Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA).
Dawn S. Peck +19 more
openaire +3 more sources
PLoS ONE, 2022 Background Electronic fetal monitoring alone is a poor screening test for detecting fetuses at risk of acidemia or asphyxia. We aimed to evaluation of predictive ability of the National Institute of Child Health and Human Development (NICHD) 3-tier fetal
Ninlapa Pruksanusak +3 more
doaj +2 more sources
Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report
BMC Pediatrics, 2021 Background Cystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be negligible in non-Caucasians but growing epidemiological evidence shows CF is more common in Indian, African,
Bennett O. V. Shum +3 more
doaj +1 more source
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
International Journal of Neonatal Screening, 2022 Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held +2 more
doaj +1 more source
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease [PDF]
Genetics in Medicine, 2018 To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator.
Silvia, Tortorelli +11 more
openaire +2 more sources