Last Posted: Jan 22, 2021
- Neonatal screening program for five conditions in Honduras.
Buckley Michelle Melissa Miralda et al. Journal of community genetics 2021 Jan
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216
- Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
Mohamed Sarar et al. Saudi medical journal 2020 Jul 41(7) 703-708
- The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies M M et al. Molecular genetics and metabolism 2020 Jan
- 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
- Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Zeltner Nina A et al. Orphanet journal of rare diseases 2019 Nov 14(1) 248
Cerone Jennifer et al. Pediatrics in review 2019 Oct 40(Suppl 1) 24-27
- Web medical information produces anxiety in parents of infants with suspected galactosemia.
Iakovou Kostas et al. Reviews on environmental health 2019 Feb
- Hereditary galactosemia.
Demirbas Didem et al. Metabolism: clinical and experimental 2018 83188-196
- Developmental Outcomes in Duarte Galactosemia.
Carlock Grace et al. Pediatrics 2018 Dec
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public 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.