Last Posted: Sep 02, 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
- Gaucher Disease in Bone: From Pathophysiology to Practice.
Hughes Derralynn et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Jun
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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