ArticleJIMD reports2026
A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.
Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.JIMD reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal, and glycosylation disorders. We retrospectively analyzed 14 pediatric patients with molecularly confirmed CTDs at a single center. Clinical, biochemical, imaging, and genetic findings were reviewed to explore genotype-phenotype relationships and shared clinical features. The cohort included 8 females and 6 males, with a median diagnostic age of 29 months (range: 1-86 months). Common initial symptoms were developmental delay, hypotonia, seizures, and hepatosplenomegaly. MRI abnormalities were noted in 7 patients. Elevated serum lactate and dicarboxylic aciduria were observed in 9 and 6 patients, respectively. Creatine kinase was raised in several cases, prominently in one with TANGO2 deficiency. Elevated AST (
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