Evidence map›Paper›PMID 42328330›Full record

ArticleClinical case reports2026

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene.

Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li

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In one paragraph

Article in Clinical case 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.

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0citing papers in PubMed
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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

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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

7 authors.

Tingyu LiDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Tianyi LiuDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Lujuan LiDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Yang LiuDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Qi ZhangDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Xian ChengDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.
Zhong LiDepartment of Pharmaceutics Dalian Women and Children's Medical Group Dalian Liaoning China.ORCID https://orcid.org/0000-0002-2613-8070

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The patient presented with severe hypoglycemia and convulsions 43 h after birth. The clinical features were typical, with the presence of obvious hyperinsulinemic hypoglycemia and asymptomatic hyperammonemia, and it was sensitive to the treatment of diazoxide. The diagnosis of HI/HA was confirmed by genetic testing.

Indexed as

clinical report and genetic analysisGLUD1 gene mutationhyperinsulin‐hyperammonemia (HI/HA)/glutamate dehydrogenase‐type hyperinsulinemia (GDH‐HI)neonate

Identifiers

PMID42328330
PMCPMC13279447

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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.