Last Posted: Jan 10, 2020
- [Advances in newborn screening and immune system reconstitution of severe combined immunodeficiency].
Huang Shumin et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2019 Jun 48(4) 351-357 - Cystic fibrosis in the year 2020: a disease with a new face.
De Boeck Kris et al. Acta paediatrica (Oslo, Norway : 1992) 2020 Jan - Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.
Chan Kee et al. Global pediatric health 2019 62333794X19894812 - Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population.
Yang Chiju et al. Clinica chimica acta; international journal of clinical chemistry 2019 Dec 502133-138 - Should We Sequence the Genome of Every Newborn?
Scientific American Blog, December 2019 - 244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Dangouloff Tamara et al. Neuromuscular disorders : NMD 2019 Nov - Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Yiming et al. Journal of inherited metabolic disease 2019 Dec - High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl Heiko et al. Journal of inherited metabolic disease 2019 Dec - Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
van Campen Julia C et al. International journal of neonatal screening 2019 Dec 5(4) 40 - Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec
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