A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the

Pei Lu, Li Ma, Jingjing Sun, Xiaohui Gong, Cheng Cai

Open access · diamondAbstract readCase Reports

In one paragraph

Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it

0cells of the map it votes in

4citing papers in PubMed

0.1field-weighted citation impact, top 58% of its field

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

4 citing papers in PubMed, 4 citations in OpenAlex.

Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy.Genes · 2026
Review
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.BMC medical genomics · 2025
Article
Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.PloS one · 2025
Article
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.The application of clinical genetics · 2025
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

5 authors at 2 institutions in 1 country.

Pei LuDepartment of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Li MaDepartment of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Jingjing SunDepartment of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Xiaohui GongDepartment of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Cheng CaiDepartment of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Shanghai Jiao Tong University · CNShanghai Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this study, we report a male newborn with severe Zellweger spectrum disorder (ZSDs) presenting asphyxia, hypotonia, poor feeding, and dysmorphic facial features. Despite intensive supportive treatment, the boy's condition deteriorated progressively. The patient's diagnosis was made by delayed results after his death. His genetic analysis showed that the boy carried novel compound heterozygous mutation in

Indexed as

Case reportneonateZellweger spectrum disorder, PEX1

Identifiers

PMID33708531

DOI10.21037/tp-20-167

PMCPMC7944177

OpenAlexW3127658904

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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.