Evidence map›Paper›PMID 40534546›Full record

ArticleJournal of pediatric endocrinology & metabolism : JPEM2025

A novel homozygous missense

Eda Mengen, Deniz Kor, Fatma Derya Bulut, Leman Damla Kotan, İhsan Turan, Bilgin Yüksel, Neslihan Önenli Mungan

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of pediatric endocrinology & metabolism : JPEM, 2025. 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. Coordinated expression and assembly of BiP, p58Proceedings of the National Academy of Sciences of the United States of America · 2026
    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

7 authors.

Eda MengenDepartment of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, 01330, Adana, Türkiye.ORCID https://orcid.org/0000-0003-1597-8418
Deniz KorDepartment of Pediatric Metabolism and Nutrition, Çukurova University Faculty of Medicine, Adana, Türkiye.ORCID https://orcid.org/0000-0001-7659-0500
Fatma Derya BulutDepartment of Pediatric Metabolism and Nutrition, Çukurova University Faculty of Medicine, Adana, Türkiye.ORCID https://orcid.org/0000-0003-0529-2404
Leman Damla KotanDepartment of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, 01330, Adana, Türkiye.ORCID https://orcid.org/0000-0001-6176-8986
İhsan TuranDepartment of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, 01330, Adana, Türkiye.ORCID https://orcid.org/0000-0002-5654-247X
Bilgin YükselDepartment of Pediatric Endocrinology, Faculty of Medicine, Çukurova University, 01330, Adana, Türkiye.ORCID https://orcid.org/0000-0002-9753-381X
Neslihan Önenli MunganDepartment of Pediatric Metabolism and Nutrition, Çukurova University Faculty of Medicine, Adana, Türkiye.ORCID https://orcid.org/0000-0001-7862-3038

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThe CASE PRESENTATION: A 15-year-old 5-month-old girl with polyuria and polydipsia for the last 2-3 months was diagnosed and treated as diabetic ketoacidosis at the center where she was admitted with complaints of general condition disorder and frequent breathing. Her laboratory findings were HbA

conclusionsThis case supports the wide phenotypic spectrum and multisystem involvement potential of

Indexed as

Diabetes Mellitus, Type 1HSP40 Heat-Shock ProteinsMutation, MissenseAdolescentFemaleHomozygoteHumansPrognosisSyndromeDNAJC3 protein, humanHSP40 Heat-Shock ProteinsDNAJC3endoplasmic reticulummonogenic diabetesneurodegeneration

Identifiers

PMID40534546

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.