Last Posted: Jan 14, 2021
- A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
- Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.
Ames Elizabeth G et al. International journal of neonatal screening 2020 Sep 6(3)
- Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton Barbara K et al. International journal of neonatal screening 2020 Sep 6(3)
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.
Gragnaniello Vincenza et al. International journal of neonatal screening 2020 Nov 6(4)
- Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Bilyeu Heather et al. International journal of neonatal screening 2020 Oct 6(4)
- Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.
Kellar-Guenther Yvonne et al. International journal of neonatal screening 2020 Jun 6(2) 35
- Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Bosfield Kerri et al. American journal of medical genetics. Part A 2020 Oct
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.
Conijn Thirsa et al. Journal of genetic counseling 2020 Sep
- A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
- A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff Elena R et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
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- Erythema Multiforme
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- Fragile X Syndrome
- Gaucher Disease
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- Myasthenia Gravis
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- 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.