Results 41 to 50 of about 2,287,543 (147)

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

Philippine Journal of Pathology, 2018
Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methdology.
Emilio Villanueva III, Roel Martin Bumalay, John Michael Rivera   +2 more
doaj  

Implementing enclosed sterile integrated robotic platforms to improve cell-based screening for drug discovery

SLAS Technology
At GSK, we have implemented custom integrated robotics platforms housed in bespoke biosafety enclosures to augment our capabilities in advanced cellular screening.
Alice Rockliffe, Lauren Wheeler, Kiran Lidhar, Arun Dhar, Michelle Pemberton, Richard Kasprowicz, Ceridwen Hopely, Jo Francis, Shane Marine, David Brierley, Lorna Suckling   +10 more
doaj   +1 more source

Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing

International Journal of Neonatal Screening
The California Genetic Disease Screening Program (GDSP) employs a fixed immunoreactive trypsinogen (IRT) cutoff followed by molecular testing to screen newborns for cystic fibrosis (CF).
Stanley Sciortino, Steve Graham, Tracey Bishop, Jamie Matteson, Sarah Carter, Cindy H. Wu, Rajesh Sharma   +6 more
doaj   +1 more source

Neonatal screening

The Turkish Journal of Pediatrics, 2003
Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities.
openaire   +3 more sources

A 25-Year Retrospective on Bavaria’s Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up

International Journal of Neonatal Screening
The German federal state of Bavaria implemented newborn screening (NBS) using dried blood spots (DBS) as an integrated public health programme with centralised coordination.
Uta Nennstiel, Inken Brockow, Birgit Odenwald, Carola Marzi, Marianne Hanauer, Esther Maier, Wulf Röschinger, Ralph Fingerhut, Bernhard Liebl   +8 more
doaj   +1 more source

Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

International Journal of Neonatal Screening
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication ...
Chloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip, Felicite Enyu Song, Raymond Chiu Mo Tam, Leanne Wing Ying Yu, Ann Anhong Ke, Eric Chun Yiu Law, Toby Chun Hei Chan, Matthew Chun Wing Yeung   +9 more
doaj   +1 more source

FOXP4-mediated induction of PTK7 activates the Wnt/β-catenin pathway and promotes ovarian cancer development

Cell Death and Disease
Ovarian cancer (OV) poses a significant challenge in clinical settings due to its difficulty in early diagnosis and treatment resistance. FOXP4, belonging to the FOXP subfamily, plays a pivotal role in various biological processes including cancer, cell ...
Jing Ji, Qilan Qian, Wenhao Cheng, Xiaoqing Ye, Aixin Jing, Shaojie Ma, Yuanyuan Ding, Xinhui Ma, Yasong Wang, Qian Sun, Xiujun Wang, Yulu Chen, Lan Zhu, Qing Yuan, Menghan Xu, Jingting Qin, Lin Ma, Jiayan Yang, Meiqi Zhang, Ting Geng, Sen Wang, Dan Wang, Yizhuo Song, Boyu Zhang, Yuting Xu, Linyu Xu, Shunfang Liu, Wei Liu, Bin Liu   +28 more
doaj   +1 more source

P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum

Genetics in Medicine Open
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty   +6 more
doaj   +1 more source

P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State

Genetics in Medicine Open
Jing Xiao, Sarah Bradley, Christopher Johnson, Carlos Saavedra-Matiz, Tara Whispell, Joseph Orsini, Michele Caggana   +6 more
doaj   +1 more source