Last Posted: Jan 04, 2020
- 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 - Inequities in newborn screening: Race and the role of medicaid ☆ .
Sohn Heeju et al. SSM - population health 2019 Dec 9100496 - Sickle cell disease in Germany: Results from a national registry.
Kunz Joachim B et al. Pediatric blood & cancer 2019 Dec e28130 - Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson Daniela R et al. Molecular genetics and metabolism 2019 Nov - Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience.
Kommalur Anitha et al. Journal of tropical pediatrics 2019 Dec
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