Last Posted: May 11, 2021
- Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.
Lee Bo Hoon et al. Muscle & nerve 2021
- Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.
Lisi Emily C et al. Journal of genetic counseling 2021
- Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson Jamie et al. International journal of neonatal screening 2021 7(2)
- Spinal Muscular Atrophy.
Nicolau Stefan et al. Seminars in pediatric neurology 2021 37100878
- Implementing newborn screening for sickle cell disease in Korle Bu Teaching Hospital, Accra: Results and lessons learned.
Segbefia Catherine I et al. Pediatric blood & cancer 2021 e29068
- "We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy
Kariyawasam Didu S T et al. EClinicalMedicine 2021 33100742
- Rare disease awareness and perspectives of physicians in China: a questionnaire-based study.
Li Xuefeng et al. Orphanet journal of rare diseases 2021 16(1) 171
- The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain Dominique P et al. Molecular genetics & genomic medicine 2021 e1666
- Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years' experience in Lodz Voivodship.
Olszowiec-Chlebna M et al. Italian journal of pediatrics 2021 47(1) 87
- Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Vill Katharina et al. Orphanet journal of rare diseases 2021 16(1) 153
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.