Evidence map›Paper›PMID 36535739›Full record

ArticleBMJ case reports2022

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

Yee Yin Tan, Wen Yan Nikki Fong, Charmaine Jiahui Chan, Suresh Chandran

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

Article in BMJ case reports, 2022. 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
0.7field-weighted citation impact, top 31% 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, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
  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

4 authors at 1 institution in 1 country.

Yee Yin Tan *Department of Neonatology, KK Women's and Children's Hospital, Singapore.
Wen Yan Nikki FongGenetic Services, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Charmaine Jiahui ChanDepartment of Paediatric Subspecialities, KK Women's and Children's Hospital, Singapore.
Suresh Chandran *Department of Neonatology, KK Women's and Children's Hospital, Singapore profschandran2019@gmail.com.ORCID http://orcid.org/0000-0001-5961-7441
KK Women's and Children's Hospital · SG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency is a rare lethal inherited disorder of fatty acid oxidation. Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes for β-oxidation, where CPT II plays a key role. CPT II deficiency phenotypical forms include lethal neonatal, severe infantile and myopathic forms. We present a term small-for-gestational-age neonate with hypoglycaemia, seizures, refractory cardiac arrhythmias and intracranial haemorrhage. Plasma acylcarnitine profile and the genetic study confirmed CPT II deficiency. Additionally, likely pathogenic variants in the

Indexed as

Carnitine O-PalmitoyltransferaseLipid Metabolism, Inborn ErrorsCardiomegalyCarnitineFatty AcidsFemaleFetusHumansInfantInfant, NewbornMetabolism, Inborn ErrorsPregnancySolute Carrier Family 22 Member 5CarnitineCarnitine O-PalmitoyltransferaseFatty AcidsSLC22A5 protein, humanSolute Carrier Family 22 Member 5ArrhythmiasCongenital disordersNeonatal intensive care

Identifiers

PMID36535739
PMCPMC9764616
OpenAlexW4312050635

What OpenQuestion holds

Textmetadata
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.