Evidence mapPaperPMID 41948007Full record

ArticleJIMD reports2026

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of

Rebecca L Koch, H Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T Michalovicz Gill, Matthew Morgan, Jennifer L Orthmann-Murphy, Natacha T Pires and 4 more

Abstract read
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Rebecca L KochDivision of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA.ORCID https://orcid.org/0000-0002-5387-3185
H Orhan AkmanDepartment of Neurology Columbia University Irving Medical Center New York City New York USA.ORCID https://orcid.org/0000-0003-4493-721X
Erin ChownAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.ORCID https://orcid.org/0000-0003-1144-0821
Deberah GoldmanAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Jeff LevensonAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Qing LuDepartment of Biostatistics University of Florida Gainesville Florida USA.ORCID https://orcid.org/0000-0002-7943-966X
Lindsay T Michalovicz GillAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.ORCID https://orcid.org/0000-0002-6128-8760
Matthew MorganAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Jennifer L Orthmann-MurphyDepartment of Neurology University of Pennsylvania Philadelphia Pennsylvania USA.ORCID https://orcid.org/0000-0002-2909-1722
Natacha T PiresAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Rebecca ReefAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Harriet SaxeAdult Polyglucosan Body Disease Research Foundation Brooklyn New York USA.
Moriel Singer-BerkProgram in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA.
Samantha BaxterProgram in Medical and Population Genetics Translational Genomics Group Broad Institute of MIT and Harvard Cambridge Massachusetts USA.ORCID https://orcid.org/0000-0003-4616-9234

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in

Indexed as

adult polyglucosan body diseaseAndersen diseaseAPBDGBE1glycogen branching enzymeglycogen storage disease type IVprevalence

Identifiers

PMID41948007
PMCPMC13053116

What Socratic holds

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Registered trials

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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.