Evidence map›Paper›PMID 36232299›Full record

ArticleInternational journal of molecular sciences2022

Pathological Features in Paediatric Patients with TK2 Deficiency.

Cristina Jou, Andres Nascimento, Anna Codina, Julio Montoya, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Raquel Montero, Daniel Natera-de Benito, Carlos I Ortez and 12 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-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, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  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

22 authors at 6 institutions in 2 countries.

Cristina JouPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Andres NascimentoPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Anna CodinaPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Julio MontoyaBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.ORCID 0000-0003-1770-6299
Ester López-GallardoBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.
Sonia EmperadorBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.
Eduardo Ruiz-PesiniBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.ORCID 0000-0002-0269-7337
Raquel MonteroPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0003-0609-5701
Daniel Natera-de BenitoPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0001-7764-2085
Carlos I OrtezPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Jesus MarquezPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Maria V ZelayaDepartment of Pathology, Complejo Hospitalario de Navarra-IdiSNA (Navarra Institute for Health Research), 31008 Pamplona, Spain.ORCID 0000-0002-3692-3515
Alfonso Gutierrez-MataPediatric Neurology Department, Hospital Nacional Niños "Dr Carlos Sáenz Herrera", San José 267-1005, Costa Rica.
Carmen BadosaPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Laura Carrera-GarcíaPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Jesica Expósito-EscuderoPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0002-6233-823X
Monica RoldánUnitat de Microscòpia Confocal i Imatge Cel·lular, Servei de Medicina Genètica i Molecular, Institut Pediàtric de Malaties Rares (IPER), Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.ORCID 0000-0002-9530-6234
Yolanda CamaraBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.
Ramon MartiBiomedical Center for Research in Rare Diseases CIBERER-ISCIII, 28029 Madrid, Spain.ORCID 0000-0002-8273-9540
Isidre FerrerDepartment of Pathology and Experimental Therapeutics, University of Barcelona, 08007 Barcelona, Spain.ORCID 0000-0001-9888-8754
Cecilia Jimenez-MallebreraPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0001-8203-7103
Rafael ArtuchPathology, Biobank, Pediatric Neurology, Neuromuscular Unit and Clinical Biochemistry Departments, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0002-3422-9685
Hospital Sant Joan de Déu Barcelona · ESUniversidad de Zaragoza · ESUniversitat Autònoma de Barcelona · ESBellvitge University Hospital · ESComplejo Hospitalario de Navarra · ESHospital Nacional de Niños · CR

Funding

Instituto de Salud Carlos III FIS-PI17-00021Instituto de Salud Carlos III PI17-00166Instituto de Salud Carlos III PI20-00340
6 · The paper itself

Abstract

Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency. Mitochondrial DNA was isolated from muscle biopsies to assess depletions and deletions. The

Indexed as

Mitochondrial MyopathiesDNA, MitochondrialElectron Transport Complex IVHumansMuscle, SkeletalMyocardiumSuccinate DehydrogenaseThymidine KinaseDNA, MitochondrialElectron Transport Complex IVSuccinate DehydrogenaseThymidine Kinasethymidine kinase 2mitochondrial myopathiesmuscle biopsypaediatric patientsragged red fibresTK2 deficiencyultrastructural studies

Identifiers

PMID36232299
PMCPMC9570075
OpenAlexW4296740346

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.