Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia - PubMed
Source : https://pubmed.ncbi.nlm.nih.gov/36675412/
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Conclusion: Collectively, this study demonstrated that metabolomic profiling serves as a useful and economical approach to preselecting homozygotes in FH patients with severe hypercholesterolemia and may help clinicians to conduct selective genetic confirmation testing and familial cascade screening.