Evidence map›Paper›PMID 40165924›Full record

ArticleNeuropsychiatric disease and treatment2025

Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.

Yuanfeng Zhang, Xiaorong Shi, Jianjun Huang, Chunmei Wang, Shengnan Wu, Guoli Tian, Jia Jia, Yucai Chen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neuropsychiatric disease and treatment, 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. 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.

Yuanfeng ZhangDepartment of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Xiaorong ShiPediatric Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350004, People's Republic of China.
Jianjun HuangDepartment of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Chunmei WangDepartment of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Shengnan WuMolecular Diagnostic Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Guoli TianNeonatal Screening Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Jia JiaShanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.
Yucai ChenDepartment of Neurology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: This study aimed to investigate the clinical, phenotypic, and genotypic characteristics of pediatric patients with X-linked adrenoleukodystrophy (X-ALD). Methods: Clinical and genetic data were retrospectively analyzed from 14 male pediatric patients with X-ALD (mean age: 6 years 11 months [SD: 1 year 9 months]; age range: 5-10 years) from 14 unrelated families at a single center. Results: All 14 patients were diagnosed with childhood cerebral adrenoleukodystrophy (CCALD). Initial clinical symptoms were atypical, primarily presenting as cognitive decline and neurological dysfunction, accompanied by elevated levels of very long-chain fatty acids (VLCFAs) in the blood. Brain magnetic resonance imaging (MRI) findings consistently showed characteristic white matter demyelination. Genetic analysis identified Conclusion: The findings indicate that early symptoms of X-ALD are often atypical. Blood VLCFA levels and

Indexed as

ABCD1 genehematopoietic stem cell transplantationpediatric patientsvery long chain fatty acidsX-adrenoleukodystrophy

Identifiers

PMID40165924
PMCPMC11956711

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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.