ArticleAnnals of neurology2009
Free sialic acid storage disease without sialuria.
Article in Annals of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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.
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Who cites it
6 citing papers in PubMed, 23 citations in OpenAlex.
- Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Journal of inherited metabolic disease · 2026Article
- [Free sialic acid storage disorders with fetal hydrops in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.Orphanet journal of rare diseases · 2017Article
- Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.JIMD reports · 2014Article
- Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.Neurology · 2010Article
Corrections and comments
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Authors and funding
17 authors at 9 institutions in 3 countries.
Funding
Abstract
We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion of free sialic acid in urine was normal on repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, the gene responsible for the free sialic acid storage diseases. Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria.
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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.