Evidence map›Paper›PMID 36845668›Full record

ArticleHGG advances2023

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.

Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Neal SondheimerDepartments of Paediatrics and Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
Alberto AlemanDivisions of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.
Jessie CameronDivisions of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Hernan GonorazkyDivisions of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.
Nesrin SabhaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Paula OliveiraGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Kimberly AmburgeyDivisions of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.
Azizia WahediGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Dahai WangGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Michael ShyDepartment of Neurology, University of Iowa, Iowa City, IA, USA.
James J DowlingDepartments of Paediatrics and Molecular Genetics, The University of Toronto, Toronto, ON, Canada.

Funding

CIHR
6 · The paper itself

Abstract

Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in

Indexed as

Peripheral Nervous System DiseasesPhosphoenolpyruvate Carboxykinase (ATP)AnimalsGluconeogenesisHumansMicePhosphoenolpyruvatePhosphoenolpyruvate Carboxykinase (GTP)Phosphoenolpyruvate CarboxylasePhosphoenolpyruvatePhosphoenolpyruvate Carboxykinase (ATP)Phosphoenolpyruvate Carboxykinase (GTP)Phosphoenolpyruvate CarboxylasemitochondrianeurogeneticPCK2peripheral neuropathy

Identifiers

PMID36845668
PMCPMC9947396

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.