Evidence map›Paper›PMID 40309478›Full record

ArticleHuman mutation2025

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.

Jun Kido, Keishin Sugawara, Sotiria Tavoulari, Georgios Makris, Véronique Rüfenacht, Kimitoshi Nakamura, Edmund R S Kunji, Johannes Häberle

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. 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
–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

2 citing papers in PubMed.

  1. From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
    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

8 authors.

Jun KidoUniversity Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-1328-6696
Keishin SugawaraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.ORCID 0000-0002-1345-6459
Sotiria TavoulariMedical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0002-4263-8905
Georgios MakrisUniversity Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.ORCID 0000-0001-9097-1991
Véronique RüfenachtUniversity Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.
Kimitoshi NakamuraDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.ORCID 0000-0003-4903-2428
Edmund R S KunjiMedical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0610-4500
Johannes HäberleUniversity Children's Hospital Zurich and Children's Research Centre, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-0635-091X

Funding

Medical Research Council
6 · The paper itself

Abstract

Citrin deficiency (CD) is an autosomal recessive disorder caused by the absence or dysfunction of the mitochondrial transporter citrin, resulting from mutations in

Indexed as

Calcium-Binding ProteinsCitrullinemiaMutationOrganic Anion TransportersAdolescentAdultAllelesFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornJapanMaleMitochondrial Membrane Transport ProteinsCalcium-Binding ProteinscitrinMitochondrial Membrane Transport ProteinsOrganic Anion TransportersSLC25A13 protein, humancitrin deficiencymitochondrial aspartate/glutamate carriermitochondrial diseaseSLC25 mitochondrial carrier familyurea cycle disorders

Identifiers

PMID40309478
PMCPMC12041640

What OpenQuestion holds

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Registered trials

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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.