ArticleDiagnostics (Basel, Switzerland)2023
Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.
Article in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Association of Hospital Practices and Early Postnatal Support with Breastfeeding Outcomes in Premature and Term Infants.Children (Basel, Switzerland) · 2026Article
- Preventable Infectious Pathology Dominates Neonatal Readmissions: A Retrospective Analysis from a Pediatrics Department in Ploiești, Romania.Children (Basel, Switzerland) · 2026Article
- Prevalence and Determinants of Overweight and Obesity Among Romanian Children Aged 5-17: A Cross-Sectional Study.Journal of clinical medicine · 2025Article
- From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.Diagnostics (Basel, Switzerland) · 2025Review
- One Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3-Three Case Reports.Reports (MDPI) · 2025Article
- The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.Medicina (Kaunas, Lithuania) · 2024Article
- Hepatitis B in Pediatric Population: Observational Retrospective Study in Romania.Life (Basel, Switzerland) · 2024Article
- Dyslipidemia in Pediatric Patients: A Cross-Sectional Study.Medicina (Kaunas, Lithuania) · 2023Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-center cross-sectional showcase study of genetic testing for FH in a Romanian pediatric group. Genetic testing for FH was performed on 20 Romanian pediatric patients, 10 boys and 10 girls, admitted with LDL-cholesterol levels over 130 mg/mL to the National Institute for Mother and Child Health "Alesssandrescu-Rusescu" in 2020. Genetic testing was performed using the Illumina TruSight Cardio panel. We identified pathogenic/likely pathogenic variants that could explain the phenotype in 5/20 cases. The involved genes were
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.