ArticleIntractable & rare diseases research2025
Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.
Article in Intractable & rare diseases research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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
3 citing papers in PubMed.
- Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review.BMC pediatrics · 2026Review
- How to evaluate rare disease policy effectiveness based on policy modeling consistency (PMC) index model: A quantitative assessment of policy implementation in China.Intractable & rare diseases research · 2026Article
- Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.Frontiers in nutrition · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Late-onset cobalamin C (cblC) deficiency, an inherited metabolic disorder, is often misdiagnosed due to its heterogeneous clinical presentation. This study aims to characterize the clinical and genetic spectrum of late-onset cblC deficiency in a large northern Chinese cohort and proposes a novel clinical classification based on initial symptoms. A retrospective, multicenter study of 156 patients diagnosed between October 2012 and December 2023 was conducted. Clinical, biochemical, neuroimaging, and genetic data were analyzed. Patients were classified into six subtypes based on predominant initial symptoms, and genotype-phenotype correlations were explored. The cohort (95 males, 61 females) had a median onset age of 16 years (range: 2-65). Common symptoms included spastic paralysis (41.0%), mental and behavioral abnormalities (36.5%), and renal damage (28.8%). Genetic analysis identified 52
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.