Last Posted: Feb 17, 2019
- 'I havent stopped crying since the vote.' State adds SMA to its newborn screening panel
NS Miller, Orlando Sentinel, February 15, 2019
- Lets not get too excited about genome sequencing of healthy newborns. Heres 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