Evidence map›Paper›PMID 38105703›Full record

ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2023

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.

Meng Sun, Yulin Li, Panpan Li, Gaijie Li, Yan Yan, Hui Zou

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

Article in Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2023. 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
0.2field-weighted citation impact, top 43% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  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

6 authors at 1 institution in 1 country.

Meng SunNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China. sun5331@163.com.
Yulin LiNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China.
Panpan LiNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China.
Gaijie LiNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China.
Yan YanNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China.
Hui ZouNewborn Disease Screening Center, Jinan Maternal and Child Care Hospital, Jinan 250001, China. zouhui819@163.com.
Jinan Maternity And Care Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency.

methodsClinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging.

resultsc.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in

conclusionsc.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in

Indexed as

Phenylalanine HydroxylasePhenylketonuriasAdolescentAdultChildChild, PreschoolFollow-Up StudiesHumansInfant, NewbornMutationNeonatal ScreeningPhenylalanineRetrospective StudiesYoung AdultPhenylalaninePhenylalanine HydroxylaseFollow-up studiesGeneNewborn screeningPhenylalanine hydroxylase deficiencyPrognosis

Identifiers

PMID38105703
PMCPMC10764183
OpenAlexW4389409772

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.