Evidence map›Paper›PMID 31156707›Full record

ArticleFrontiers in genetics2019

Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.

Yuqi Yang, Shu Hong Jiang, Shuang Liu, Xiao Ya Han, Ying Wang, Lei Lei Wang, Bin Yu

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

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 26% 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, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. 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

7 authors at 3 institutions in 1 country.

Yuqi YangChangzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.
Shu Hong JiangChangzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.
Shuang LiuLianyungang Maternal and Child Health Hospital, Yangzhou University, Lianyungang, China.
Xiao Ya HanChangzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.
Ying WangChangzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.
Lei Lei WangLianyungang Maternal and Child Health Hospital, Yangzhou University, Lianyungang, China.
Bin YuChangzhou Maternity and Child Health Care Hospital, Nanjing Medical University, Changzhou, China.
Nanjing Maternity and Child Health Care Hospital · CNLianyungang Maternal and Children’s Hospital · CNNanjing Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and identified two infants with BKTD among 203,750 newborns born in Jiangsu Province, China. Both infants showed the characteristic chemical abnormalities of BKTD. We used NGS to confirm variants in the

Indexed as

ACAT1beta-ketothiolase deficiencyinborn errors of metabolismnewborn screeningnext-generation sequencingtandem mass spectrometry

Identifiers

PMID31156707
PMCPMC6530354
OpenAlexW2946219754

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.