Last Posted: Feb 17, 2019
- 'I haven’t stopped crying since the vote.' State adds SMA to its newborn screening panel
NS Miller, Orlando Sentinel, February 15, 2019 - Let’s not get too excited about genome sequencing of healthy newborns. Here’s why!
Grosse SD et al, CDC Blog Post, February 15, 2019 - Fabry disease: Review and experience during newborn screening.
Hsu Ting-Rong et al. Trends in cardiovascular medicine 2018 28(4) 274-281 - Actions in Support of Newborn Screening for Critical Congenital Heart Disease - United States, 2011-2018.
Glidewell Jill et al. MMWR. Morbidity and mortality weekly report 2019 Feb 68(5) 107-111 - Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 140-146 - Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova Alina et al. Journal of inherited metabolic disease 2019 Jan 42(1) 107-116 - Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population.
Cantú-Reyna C et al. Journal of neonatal-perinatal medicine 2019 Feb - Inborn errors of metabolism in the 21 st century: past to present.
Arnold Georgianne L et al. Annals of translational medicine 2018 Dec 6(24) 467 - Newborn screening and changing face of inborn errors of metabolism in the United States.
Kanungo Shibani et al. Annals of translational medicine 2018 Dec 6(24) 468 - Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller Rebecca et al. Journal of inherited metabolic disease 2019 Jan 42(1) 128-139
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