Results 31 to 40 of about 12,595,460 (288)

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

International Journal of Neonatal Screening, 2018
Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in ...
Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien   +7 more
doaj   +1 more source

The Two-Tier Fecal Occult Blood Test: Cost-Effective Screening

Canadian Journal of Gastroenterology, 1994
The two-tier test represents a strategy combining HO Sensa and Hemeselect fecal occult blood tests (FOBTs) with the aim of greater specificity and consequent economic advantages.
Andrew J Rae, Iain GM Cleator
doaj   +1 more source

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

BMC Medical Genomics, 2020
Background Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of ...
Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng   +4 more
doaj   +1 more source

An evidence-based approach to working-memory based training in secondary education to improve reasoning test achievements [PDF]

, 2018
Secondary school teachers regularly observe that adolescent students have insufficient reasoning skills to properly answer reasoning test questions. One potentially effective strategy is developing learning strategies based on working memory training ...
Ariës, Roel J.F.
core   +4 more sources

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

Frontiers in Pediatrics, 2021
Background: Although newborn screening (NBS) for metabolic defects using the marker butyl carnitine (C4) combined with the C4-to-acetylcarnitine ratio is adequate, the incorporation of novel parameters may improve differential testing for these disorders
Wei Zhou, Wei Zhou, Heng Cai, Huizhong Li, Zhe Ji, Maosheng Gu   +5 more
doaj   +1 more source

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Journal of Laboratory Medicine, 2021
Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu   +5 more
doaj   +1 more source

Development and Implementation of a Four-Tier Close-Ended Test to Analyze Students' Misconceptions of Optical Instruments

Tadris: Jurnal Keguruan dan Ilmu Tarbiyah, 2023
The research aims to develop a four-tier test for optical instrument materials. The method used in this study is a 4D design that includes defining, designing, developing, and disseminating. The instrument used consisted of fifteen items in the form of a
Itsna Rona Wahyu Astuti, Achmad Samsudin, Ida Kaniawati, Endi Suhendi, Bayram Çoştu   +4 more
doaj   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

International Journal of Neonatal Screening
Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
Sabrina Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, Silvia Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, Cristina Cereda, Simonetta Simonetti, Annalisa Lonetti, Marta Daniotti, Anna Caciotti, Amelia Morrone, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Elena Procopio, Renzo Guerrini, Giancarlo la Marca   +21 more
doaj   +1 more source

Development of Strategies to Decrease False Positive Results in Newborn Screening

International Journal of Neonatal Screening, 2020
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.
Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca   +3 more
doaj   +1 more source

Test Submission

This is a sample submission generated by Vireo to test the repository deposit ...
Submitter, Test
core   +5 more sources