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Homozygosity for a Clinically Significant <i>GALC</i> Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling. [PDF]

Int J Neonatal Screen
Schecter DR, Donnelly C, White A, Raynes H, Heller G, Rajan D, Saavedra-Matiz CA, Orsini J, Boelens JJ, Matern D, Ganesh J.   +10 more
europepmc   +1 more source

Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.

Public Health Genomics
Smits SG, Duintjer AJ, van Duyvenvoorde HA, Rodenburg W, van der Burg M, Henneman L, Blom M.   +6 more
europepmc   +1 more source

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Promises and challenges of genomic newborn screening (NBS) – lessons from public health NBS programs

Pediatric Research
Newborn screening (NBS) in the United States began in the 1960s to detect inborn errors of metabolism that benefited from presymptomatic treatment compared with treatment after the development of symptoms and diagnosis. Over time, it expanded to include endocrinological disorders, hematological disorders, immunodeficiencies, and other treatable ...
Mariko Mori, Bimal P. Chaudhari, Margie A. Ream, Alex R. Kemper   +3 more
semanticscholar   +3 more sources

EMBRACING USE OF TELEMEDICINE IN METABOLIC NEWBORN SCREENING (NBS) FOLLOW-UP

Molecular Genetics and Metabolism, 2023
Sarah Viall, L. Wessenberg
semanticscholar   +2 more sources

Pursuing objective performance metrics of Newborn Screening (NBS) tests for LSDs

Molecular Genetics and Metabolism, 2011
D. Matern, J. Orsini, Neil Maffit, G. Pino, Elyse Grycki, S. Tortorelli, D. Oglesbee, D. Gavrilov, P. Rinaldo, K. Raymond   +9 more
semanticscholar   +2 more sources

Outcomes of Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID) in Delaware

Journal of Allergy and Clinical Immunology, 2013
A. Mehta, S. Mcgeady, Christopher Chang
semanticscholar   +2 more sources