Evidence map›Paper›PMID 33906529›Full record

ArticleThe Journal of international medical research2021

Identification of a novel homozygous

Xinwen Zhang, Shaozhi Zhao, Hongwei Liu, Xiaoyan Wang, Xiaolei Wang, Nan Du, Hui Liu, Hongfang Duan

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

Article in The Journal of international medical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 47% 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

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences · 2025
    Review
  2. Article
  3. 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

8 authors at 2 institutions in 1 country.

Xinwen ZhangDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.ORCID https://orcid.org/0000-0002-7662-2370
Shaozhi ZhaoDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Hongwei LiuDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Xiaoyan WangNeonatal Department, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Xiaolei WangMaternal Health Centre, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Nan DuDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Hui LiuDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Hongfang DuanDepartment of Medical Genetics, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an, China.
Xi'an Medical University · CNThe Fourth People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the

Indexed as

Fucosidosisalpha-L-FucosidaseChild, PreschoolExonsHomozygoteHumansMaleMutationalpha-L-FucosidaseFUCA1 protein, humanFUCA1 geneFucosidosishomozygousnovel mutationwhole exome sequencing

Identifiers

PMID33906529
PMCPMC8111281
OpenAlexW3159888088

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.