Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: |
---|
Validation of a targeted metabolomics panel for improved second-tier newborn screening. Mak Justin et al. Journal of inherited metabolic disease 2023 |
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening. Vasquez-Loarte Tania et al. International journal of neonatal screening 2020 Oct 6(4) |
Reducing False-Positive Results in Newborn Screening Using Machine Learning. Peng Gang et al. International journal of neonatal screening 2020 Mar 6(1) |
CLINGEN Actionability Report for Ornithine Transcarbamylase Deficiency-OTC ClinGen Actionability Working Group |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106 |
Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry. |