Evidence map›Paper›PMID 40225932›Full record

ArticleHuman mutation2024

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Sukirthini Balendran-Braun, Ursula Vinatzer, Sandra Liebmann-Reindl, Manuela Lux, Petra Oliva, Stefaan Sansen, Thomas Mechtler, David C Kasper, Berthold Streubel

Abstract read
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Sukirthini Balendran-BraunDepartment of Pathology, Medical University of Vienna, Vienna, Austria.ORCID 0009-0003-5535-2994
Ursula VinatzerARCHIMED Life Science GmbH, Vienna, Austria.
Sandra Liebmann-ReindlARCHIMED Life Science GmbH, Vienna, Austria.
Manuela LuxARCHIMED Life Science GmbH, Vienna, Austria.
Petra OlivaARCHIMED Life Science GmbH, Vienna, Austria.ORCID 0000-0002-9574-6395
Stefaan SansenSanofi Genzyme, Amsterdam, Netherlands.
Thomas MechtlerARCHIMED Life Science GmbH, Vienna, Austria.
David C KasperARCHIMED Life Science GmbH, Vienna, Austria.ORCID 0009-0009-6167-4512
Berthold StreubelDepartment of Pathology, Medical University of Vienna, Vienna, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pompe disease (PD) is a rare autosomal recessive lysosomal disorder caused by loss-of-function of the

Indexed as

alpha-GlucosidasesGenetic TestingGlycogen Storage Disease Type IIAdolescentAdultChildChild, PreschoolFemaleGenotypeHumansInfantMaleMiddle AgedMutationRetrospective StudiesYoung Adultalpha-GlucosidasesGAA protein, humandried blood spots (DBSs)GAA variantsgenotype–phenotypePompe diseaseα-glucosidase (GAA) enzyme

Identifiers

PMID40225932
PMCPMC11918499

What OpenQuestion holds

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LicenceCC BY
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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 OpenQuestion graph.