Rare Diseases
Records 1 - 6 (of 6 Records) |
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Newborn Screening: Review of its Impact for Cystinosis. Hohenfellner Katharina et al. Cells 2022 11(7) |
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis. Garbade Sven F et al. PloS one 2020 15(4) e0230898 |
Molecular based newborn screening in Germany: Follow-up for cystinosis. Hohenfellner Katharina et al. Molecular genetics and metabolism reports 2019 Dec 21100514 |
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis. Fleige Tobias et al. European journal of human genetics : EJHG 2019 Sep |
CLINGEN Actionability Report for Cystinosis-CTNS ClinGen Actionability Working Group |
Clinical utility gene card for: cystinosis. |