Last Posted: Feb 27, 2020
- 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
- Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50
- Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Voorink-Moret M et al. Molecular genetics and metabolism 2017 Dec
- Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang Xuntian et al. Science translational medicine 2016 May 8(337) 337ra63
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton Barbara K et al. The Journal of pediatrics 2017 Jul
- Gene therapy shows promise for treating Niemann-Pick disease type C1
NIH, October 26, 2016
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.