Evidence map›Paper›PMID 36338215›Full record

ArticleWorld journal of clinical cases2022

Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the

Xing-Chen Wang, Ting Wang, Rui-Han Liu, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Qing-Xia Kong

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical cases, 2022. 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
0.3field-weighted citation impact, top 44% 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.

  1. Trial
  2. Review
  3. Review
  4. Review
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 at 1 institution in 1 country.

Xing-Chen WangCheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China.
Ting WangDepartment of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China.
Rui-Han LiuDepartment of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, China.
Yan JiangClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Dan-Dan ChenClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Xin-Yu WangClinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China.
Qing-Xia KongDepartment of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China. kxdqy8@sohu.com.
Affiliated Hospital of Jining Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAdenylosuccinate lyase (ADSL) deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the CASE SUMMARY: Here, we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory epilepsy. Magnetic resonance imaging showed myelin hypoplasia. Electroencephalography findings supported a diagnosis of epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the

conclusionWe identified a novel complex heterozygous mutation in the

Indexed as

Adenylosuccinate lyase deficiencyCase reportCompound heterozygous mutationsEpilepsyPathogenic mutation

Identifiers

PMID36338215
PMCPMC9631162
OpenAlexW4306783270

What OpenQuestion holds

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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.