Last Posted: Jul 01, 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
- Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening.
Hannah-Shmouni Fady et al. Molecular genetics and metabolism reports 2019 Mar 1819-21
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