Evidence map›Paper›PMID 35627102›Full record

ArticleGenes2022

Long-Term Follow-Up of Three Family Members with a Novel

Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek, Marusa Debeljak, Sasa Ilovar, Katarina Trebusak Podkrajsek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic and 6 more

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

Article in Genes, 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
1.1field-weighted citation impact, top 21% 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, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Addison's Disease: Diagnosis and Management Strategies.International journal of general medicine · 2023
    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

16 authors at 3 institutions in 2 countries.

Tjasa KrasovecFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.
Jaka SikonjaFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0001-7843-8107
Mojca Zerjav TansekFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-3304-5120
Marusa DebeljakClinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia.
Sasa IlovarDepartment of Pediatric Cardiology, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia.
Katarina Trebusak PodkrajsekFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-0154-3547
Sara BertokDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva Ulica 20, SI-1000 Ljubljana, Slovenia.
Tine TesovnikClinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Vrazov Trg 1, SI-1000 Ljubljana, Slovenia.
Jernej KovacFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0003-3080-4838
Jasna Suput OmladicFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.
Michaela F HartmannLaboratory for Translational Hormone Analytics, Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstraße 12, 35392 Giessen, Germany.ORCID 0000-0001-7232-9532
Stefan A WudyLaboratory for Translational Hormone Analytics, Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstraße 12, 35392 Giessen, Germany.
Magdalena Avbelj StefanijaFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-0836-5114
Tadej BattelinoFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-0273-4732
Primoz KotnikFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.
Urh GroseljFaculty of Medicine, University of Ljubljana, Vrazov Trg 2, SI-1000 Ljubljana, Slovenia.ORCID 0000-0002-5246-9869
University of Ljubljana · SILjubljana University Medical Centre · SIJustus-Liebig-Universität Gießen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical and genetic characteristics of three family members with a biallelic novel pathogenic variant in the

Indexed as

Addison DiseaseNADP TranshydrogenasesAdolescentChild, PreschoolFollow-Up StudiesHumansInfantMaleMitochondrial ProteinsNADP Transhydrogenase, AB-SpecificSiblingsSteroidsYoung AdultMitochondrial ProteinsNADP Transhydrogenase, AB-SpecificNADP TranshydrogenasesNNT protein, humanSteroidsbone densityhearth sonographynicotinamide nucleotide transhydrogenaseNNT deficiencynucleotide duplicationprimary adrenal insufficiencypubertal developmenttesticular volume

Identifiers

PMID35627102
PMCPMC9140979
OpenAlexW4224289032

What Socratic 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 Socratic graph.