Results 11 to 20 of about 3,396,540 (313)

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Orphanet Journal of Rare Diseases, 2021
Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability.
K. Vill, O. Schwartz, A. Blaschek, D. Gläser, U. Nennstiel, B. Wirth, S. Burggraf, W. Röschinger, M. Becker, Ludwig Czibere, J. Durner, K. Eggermann, B. Olgemöller, E. Harms, U. Schara, H. Kölbel, W. Müller-Felber   +16 more
semanticscholar   +1 more source

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis

International Journal of Neonatal Screening, 2022
Genomic advances have contributed to a proliferation of newborn screening (NBS) programs. Psychosocial consequences of NBS have been identified as risks to these public health initiatives.
A. Tluczek, Anne L. Ersig, S. Lee
semanticscholar   +1 more source

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

Biomolecules, 2022
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the ...
Mariangela Succoio, Rosa Sacchettini, A. Rossi, G. Parenti, M. Ruoppolo   +4 more
semanticscholar   +1 more source

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

International Journal of Neonatal Screening, 2022
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation.
M. Ruoppolo, S. Malvagia, S. Boenzi, C. Carducci, C. Dionisi-Vici, F. Teofoli, A. Burlina, A. Angeloni, T. Aronica, A. Bordugo, I. Bucci, M. Camilot, M. T. Carbone, Roberta Cardinali, C. Carducci, M. Cassanello, C. Castana, C. Cazzorla, R. Ciatti, S. Ferrari, G. Frisso, S. Funghini, F. Furlan, S. Gasperini, V. Gragnaniello, C. Guzzetti, G. la Marca, L. La Spina, Tania Lorè, C. Meli, MariaAnna Messina, A. Morrone, Francesca Nardecchia, R. Ortolano, G. Parenti, E. Pavanello, D. Pieragostino, S. Pillai, Francesco Porta, F. Righetti, C. Rossi, V. Rovelli, A. Salina, L. Santoro, P. Sauro, M. Schiaffino, Simonetta Simonetti, M. Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu   +49 more
semanticscholar   +1 more source

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Orphanet Journal of Rare Diseases, 2022
Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we
Xin-Wen Huang, Ding-Wen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jian-Bin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zheng-Yan Zhao   +10 more
semanticscholar   +1 more source

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

International Journal of Neonatal Screening, 2022
Screening for severe combined immunodeficiency (SCID) was added to the New Zealand national newborn screening programme in December 2017. Documentation pertaining to the application to add SCID to the panel and screening results over the first three ...
Natasha Heather, Mark de Hora, Shannon Brothers, Pippa Grainger, Detlef Knoll, Dianne Webster   +5 more
doaj   +1 more source

Principles of Genomic Newborn Screening Programs

JAMA Network Open, 2021
Key Points Question Based on current evidence, how should a genomic newborn screening (gNBS) program be designed and implemented? Findings This systematic review identified 36 relevant articles to inform important points to consider in the design of a ...
Lilian Downie, J. Halliday, S. Lewis, D. Amor   +3 more
semanticscholar   +1 more source

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy [PDF]

, 2021
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of ...
Estrella, Elicia, Abbott, Mary-Alice, Hay, Beverly N., Swoboda, Kathryn J., Gerstel-Thompson, Jacalyn L., Counihan, Anne M., Chen, Jin Yun Helen, Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Darras, Basil T., Kumar, Binod, Eaton, Roger B.   +12 more
core   +1 more source

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

Frontiers in Pediatrics, 2021
Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates.
Audrey C. Woerner, R. Gallagher, J. Vockley, Aashish N. Adhikari   +3 more
semanticscholar   +1 more source

SCID Newborn Screening: What we’ve learned

Journal of Allergy and Clinical Immunology, 2021
Newborn screening for severe combined immunodeficiency (SCID), the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating ...
R. Currier, J. Puck
semanticscholar   +1 more source