ReviewOrphanet journal of rare diseases2026
Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.
Review in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Inherited Metabolic Disorders (IMDs) constitute a varied group of genetic disorders marked by disruptions in essential molecule metabolism, resulting in diverse clinical manifestations. Early diagnosis and prompt intervention are critical for optimal disease management and the prevention of long-term complications. Metabolomics, an impactful analytical approach, has surfaced as a valuable tool in the screening, diagnosis, and monitoring of IMDs. This review offers an insight into the role of metabolomics in IMD screening, emphasizing its applications, challenges, and future potential. Metabolomics interrogates the complete spectrum of small-molecule metabolites in biological samples, allowing precise detection of metabolic perturbations that serve as signatures of specific disease states. Despite challenges in data interpretation and standardization, the ongoing evolution of technology positions metabolomics as a promising avenue for early detection and personalized management of IMDs, contributing to advancements in both research and clinical practice.
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What Socratic 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 Socratic graph.