ArticleJournal of inherited metabolic disease2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.
Article in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed.
- Goose kidney organoids: A new model for studying the metabolic mechanism of goose astrovirus-induced gout.Poultry science · 2026Article
- Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Journal of inherited metabolic disease · 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
19 authors.
Funding
Abstract
Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12-transmembrane domain protein that exports the charged sugar N-acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome. Dysfunctional sialin causes accumulation of free sialic acid within lysosomes and a range of clinical manifestations, such as intellectual disability, facial dysmorphisms, and increased urinary excretion of free sialic acid. These findings, along with characteristic brain abnormalities on MRI, make the diagnosis of FSASD. Despite recognition of the clinical and imaging phenotype, the natural history of FSASD has not been extensively elucidated. Therefore, we prospectively characterized the clinical, molecular, laboratory, and imaging findings of eight children with FSASD in order to pursue biomarker discovery with collaborators in a consortium of FSASD investigators. Our cohort displayed a high prevalence of ophthalmologic and auditory abnormalities, including myopia, exotropia, and abnormal ABR. Prominent features include impaired CNS myelination, a very thin corpus callosum, documentation of varying levels of intellectual disability, elevated urine, plasma, and CSF free sialic acid levels, and essentially normal endocrine, hematologic, and immunologic parameters. The consistent finding of delayed but progressive myelination suggests that quantitative assessment of myelination by MRI and
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.