ArticleJIMD reports2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Article in JIMD reports, 2022. 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, 16 citations in OpenAlex.
- Artificial intelligence in the management of metabolic disorders: a comprehensive review.Journal of endocrinological investigation · 2025Review
- Article
- A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.Orphanet journal of rare diseases · 2024Review
- Inherited metabolic disorders in Cyprus.Molecular genetics and metabolism reports · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases.Orphanet journal of rare diseases · 2023Article
- Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.Iranian biomedical journal · 2023Article
- The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.JIMD reports · 2022Article
- Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.Sage open pediatricsReview
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Estonia's small population and nationwide digitalised healthcare system make it possible to perform an epidemiological study that covers the whole population. A study was performed in Tartu University Hospital, which is the only tertiary care unit in Estonia for diagnosing patients with IMD, to define the prevalence and live birth prevalence of IMDs and the effectiveness of new diagnostic methods on the diagnosis of IMD. During the retrospective study period from 1990 to 2017, 333 patients were diagnosed with IMD. Statistical analysis showed a significant increase in IMD diagnoses per year from 0.47 to 2.51 cases per 100 000 persons (
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