ArticleJournal of clinical medicine2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Article in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.Orphanet journal of rare diseases · 2026Article
- Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.Frontiers in immunology · 2026Article
- Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.Frontiers in pediatrics · 2026Article
- Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.Pediatric rheumatology online journal · 2025Article
- Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.Frontiers in immunology · 2025Article
- Comparative analysis of rare periodic fever syndromes including the first Korean case of hyperimmunoglobulinemia D and periodic fever syndrome.Clinical and experimental pediatrics · 2024Article
- A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (Clinical case reports · 2024Article
- The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.Frontiers in immunology · 2023Review
- Isolated neurological presentations of mevalonate kinase deficiency.JIMD reports · 2023Article
- Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.The Journal of clinical investigation · 2022Article
- Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.Frontiers in immunology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (
Indexed as
Identifiers
What OpenQuestion holds
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 OpenQuestion graph.