Evidence map›Paper›PMID 41282484›Full record

ArticleFrontiers in genetics2025

Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote

Hui Liu, Gaojie Liu, Lianjun Gao, Hui Wang, Yizhong Wang, Hongfang Ding

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

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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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

6 authors.

Hui Liu *Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, Shandong, China.
Gaojie Liu *Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Lianjun GaoDepartment of Pediatrics, Shengli Oil Field Central Hospital, Dongying, Shandong, China.
Hui WangDepartment of Pediatrics, Shengli Oil Field Central Hospital, Dongying, Shandong, China.
Yizhong WangDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Hongfang DingDepartment of Pediatrics, Shengli Oil Field Central Hospital, Dongying, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: D-bifunctional protein deficiency (D-BPD) is a rare fatal autosomal recessive peroxisomal disorder caused by biallelic pathogenic mutations in the hydroxysteroid 17-beta dehydrogenase 4 ( Case presentation: In this report, we describe a female neonate from China who was diagnosed with D-BPD. The patient presented with neonatal asphyxia, hypotonia, weak reflexes, and feeding difficulty after birth. Seizures occurred on the fifth day of life and were initially treated with phenobarbital. However, the seizures reoccurred and became more difficult to control because of their increased frequency, duration, and anticonvulsive drug resistance. Whole-genome sequencing (WGS) revealed novel compound heterozygous mutations c.1145G>A(p.Gly382Asp)/c.1193C>G(p.Ser398*) in exon 13 of the Conclusion: We described the incidence of D-BPD in a Chinese neonate caused by novel biallelic pathogenic variants in

Indexed as

D-BPDHSD17B4neonateseizureVLCFAs

Identifiers

PMID41282484
PMCPMC12631431

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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.