Results 11 to 20 of about 105,938 (265)

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Journal of Inborn Errors of Metabolism and Screening, 2016
The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD, Elisa M. Castells MSc, Amarilys Frómeta MSc, Ana Luisa Arteaga MD, Lesley Del Río MSc, Yileidis Tejeda MSc, Pedro L. Pérez LT, Mary Triny Segura BSc, Pedro Almenares MSc, Yenitse Perea MSc, Niurka M. Carlos MSc, René Robaina MD, PhD, José L. Fernández-Yero MD, PhD   +12 more
doaj   +1 more source

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

International Journal of Neonatal Screening, 2020
Newborn Bloodspot Screening (NBS) has existed for over 60 years, having been initiated by Guthrie in the U.S. In the Philippines, NBS was introduced in 1996 and later was supported by legislation. The NBS program now includes 29 conditions, covering 91.6%
Carmencita D. Padilla, Bradford L. Therrell, Karen Asuncion R. Panol, Riza Concordia N. Suarez, Ma. Elouisa L. Reyes, Charity M. Jomento, Ebner Bon G. Maceda, Jovy Ann C. Lising, Frederick David E. Beltran, Lita L. Orbillo   +9 more
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Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease

International Journal of Neonatal Screening, 2021
Population-based newborn screening for Krabbe disease was initiated by measurement of galactocerebrosidase (GALC) activity in the state of Illinois in December 2017.
Khaja Basheeruddin, Rong Shao, Fran Balster, Pearlie Gardley, Laura Ashbaugh   +4 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

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

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

International Journal of Neonatal Screening, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an ...
Mark R de Hora, Natasha L Heather, Tejal Patel, Lauren G Bresnahan, Dianne Webster, Paul L Hofman   +5 more
doaj   +1 more source

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

International Journal of Neonatal Screening, 2023
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV).
Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen   +5 more
doaj   +1 more source

Quantitative characterization of the urine and serum metabolomes of children is essential for ‘omics’ studies

BMC Medicine, 2018
Understanding the long-term health impacts of the early-life exposome requires the characterization and assimilation of multi ‘omics’ data to ultimately link molecular changes to exposures.
Alicia DiBattista, Pranesh Chakraborty
doaj   +1 more source

O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY

Annals of Hepatology, 2023
Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles ...
Mariela Solano-Vargas, Juan Diego Gutiérrez-Ávila, Jessica Arroyo-Hernández, Danny Alvarado-Romero, Natassia Camacho-Matamoros, Mildred Jiménez-Hernández   +5 more
doaj   +1 more source

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, Sikha Singh   +9 more
doaj   +1 more source