Last Posted: Sep 23, 2021
- Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806
- Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.
Alsafadi Danyah et al. JMIR research protocols 2021 10(8) e28619
- Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik Pawel et al. International journal of molecular sciences 2021 22(11)
- Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.
Conijn Thirsa et al. Journal of community genetics 2021
- Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Peck Dawn S et al. International journal of neonatal screening 2020 Feb 6(1)
- The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Marwaha Ashish et al. American journal of medical genetics. Part A 2021 Feb
- 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)
- A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening.
Yu Seok-Ho et al. International journal of neonatal screening 2020 Nov 6(4)
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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- Fragile X Syndrome
- Gaucher Disease
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- Myasthenia Gravis
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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.