Last Posted: Oct 23, 2021
- Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Daykin Emily et al. Molecular genetics and metabolism 2021
- Counseling for personal health implications identified during reproductive genetic carrier screening.
Gbur Samantha et al. Prenatal diagnosis 2021
- The Future of Newborn Screening for Lysosomal Disorders.
Wasserstein Melissa P et al. Neuroscience letters 2021 136080
- Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.
Miyamoto Toshihiro et al. Internal medicine (Tokyo, Japan) 2021 60(5) 699-707
- 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
- 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)
- FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.
Garbade Sven F et al. PloS one 2020 15(4) e0230898
- A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez María Alejandra et al. Heliyon 2020 Mar 6(3) e03635
- Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61
- Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien Yin-Hsiu et al. Orphanet journal of rare diseases 2020 Feb 15(1) 38
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
- NIH Information (5)
- COVID-19 (9)
- Human Genome Epidemiologic Studies (87)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (23)
- Genomic Tests Evidence Synthesis (4)
- Genomic Tests Guidelines (2)
- Non-Genomics Precision Health (1)
- State Public Health Genomics Programs (1)
- Reviews/Commentaries (7)
- Tools/Methods (1)
- Ethical/Legal and Social Issues (ELSI) (1)
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.