Evidence map›Paper›PMID 35782291›Full record

ArticleMolecular genetics and metabolism reports2022

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis and 2 more

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In one paragraph

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 60% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. 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

12 authors at 4 institutions in 2 countries.

Polina TsygankovaResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Igor BychkovResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Marina MinzhenkovaResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Natalia PechatnikovaMorozov Children's City Clinical Hospital, 4th Dobryninskij per, 1/9, Moscow, Russia.
Lyudmila BessonovaResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Galina BuyanovaRegional Children's Clinical Hospital of Chelyabinsk, 454076 Chelyabinsk, 42a Blucher Street, Russia.
Irina NaumchikRepublican scientific medical center "Mother and child", Minsk, Belarus, 66 Orlovskaya str., Minsk 220053, Belarus.
Nikita BeskorovainiyResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Vyacheslav TabakovResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Yulia ItkisResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Nadezhda ShilovaResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Ekaterina ZakharovaResearch centre for medical genetics, Moscow, Russia, Moskvoreche, 1, 15552 Moscow, Russia.
Research Centre for Medical Genetics · RUCity Clinical Hospital · RURegional Clinical Hospital No 4 · RURSPC MT · BY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pathogenic variants in the pyruvate carboxylase (PC) gene cause a wide spectrum of recessive phenotypes, ranging from the early-onset fatal encephalopathy to the adult-onset benign form. Results: Patient 1 is a 6 y.o. boy with ataxia, hypoglycemia and episodes of lactic acidosis. WGS revealed the novel heterozygous missense variant c.1372A > G (p.Asn458Asp) in the Conclusion: In patients with metabolic crises, lactic acidosis and hypoglycemia analysis of

Indexed as

Deep intronic variantsPyruvate carboxylase deficiencyReciprocal translocationsWESWGS

Identifiers

PMID35782291
PMCPMC9240867
OpenAlexW4283312885

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.