Evidence map›Paper›PMID 40529477›Full record

ArticleJIMD reports2025

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Marya S Sabir, Laura Pollard, Lynne Wolfe, David R Adams, Carla Ciccone, Petcharat Leoyklang, Frances M Platt, Marjan Huizing, William A Gahl, May Christine V Malicdan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Marya S SabirNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.ORCID https://orcid.org/0000-0001-6333-4049
Laura PollardBiochemical Genetics Laboratory Greenwood Genetic Center Greenwood South Carolina USA.
Lynne WolfeNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
David R AdamsNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
Carla CicconeHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
Petcharat LeoyklangHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
Frances M PlattDepartment of Pharmacology University of Oxford Oxford UK.
Marjan HuizingHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
William A GahlNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
May Christine V MalicdanNIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.ORCID https://orcid.org/0000-0003-1697-6959

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in

Indexed as

leukocyteslysosomal storage disordersSalla diseasesialic acidsialinSLC17A5

Identifiers

PMID40529477
PMCPMC12171062

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.