Evidence map›Paper›PMID 39483531›Full record

ArticleFrontiers in pediatrics2024

Case Report: Functional characterization of a missense variant in

Herodes Guzman, Lauren M Mitteer, Pan Chen, Christine A Juliana, Kara Boodhansingh, Katherine Lord, Arupa Ganguly, Diva D De Leon

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

Article in Frontiers in pediatrics, 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

8 authors.

Herodes GuzmanDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Lauren M MitteerDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Pan ChenDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Christine A JulianaDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Kara BoodhansinghDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Katherine LordDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Arupa GangulyDepartment of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
Diva D De LeonDivision of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypoketotic hypoglycemia due to dysregulated insulin secretion is the most common cause of persistent hypoglycemia in children. However, this type of hypoglycemia can also result from defects in the insulin signaling pathway. Distinguishing between the two is important for informing treatment decisions. Here we describe the case of a 10-year-old female with fasting and postprandial hypoglycemia who was found to have a missense variant in the

Indexed as

beta cellsglucosehyperinsulinisminsulininsulin receptor

Identifiers

PMID39483531
PMCPMC11524959

What OpenQuestion holds

Textmetadata
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.