ArticleMolecular genetics and metabolism reports2020
Cardiovascular findings in classic homocystinuria.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 8 citations in OpenAlex.
- Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance.JIMD reports · 2026Article
- Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.International journal of molecular sciences · 2026Article
- Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).Molecular medicine reports · 2026Review
- Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience.Molecular genetics and metabolism reports · 2025Article
- Multi-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome.Molecular neurobiology · 2025Article
- Article
- Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review.Radiology case reports · 2023Article
- Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.Children (Basel, Switzerland) · 2023Article
- Point-of-Care Ultrasonography Saves the Day in Dilated Cardiomyopathy: A Rare Presentation of Hyperhomocysteinemia.Cureus · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivedescribe cardiovascular findings from echocardiograms and electrocardiograms in patients with Classic Homocystinuria.
methodsthis retrospective exploratory study evaluated fourteen subjects with Classic Homocystinuria (median age = 27.3 years; male
resultsEight patients presented some abnormalities on echocardiogram (
conclusionmild valvulopathies seen to be common in patients with Classic Homocystinuria, but more studies regarding echocardiogram and electrocardiogram in this population are needed to draw absolute conclusions.
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Registered trials
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