Evidence map›Paper›PMID 39282050›Full record

ArticleMolecular genetics and metabolism reports2024

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.

Yusuke Hattori, Jun Kido, Keishin Sugawara, Takaaki Sawada, Shirou Matsumoto, Kimitoshi Nakamura

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 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. Review
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

6 authors.

Yusuke HattoriDepartment of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Jun KidoDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
Keishin SugawaraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Takaaki SawadaDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Shirou MatsumotoDepartment of Neonatology, Kumamoto University Hospital, Kumamoto, Japan.
Kimitoshi NakamuraDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes. Traditionally, genotyping of the

Indexed as

IDS geneIduronate-2-sulfataseInversion variantLong-range PCRMucopolysaccharidosis type II

Identifiers

PMID39282050
PMCPMC11402328

What OpenQuestion 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 OpenQuestion graph.