Evidence map›Paper›PMID 36769695›Full record

ArticleJournal of clinical medicine2023

Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.

Eszter Kozák, Jonas W Bartstra, Pim A de Jong, Willem P T M Mali, Krisztina Fülöp, Natália Tőkési, Viola Pomozi, Sara Risseeuw, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen and 2 more

Abstract read
In one paragraph

Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. A Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum.International journal of molecular sciences · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. 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.

Eszter KozákInstitute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
Jonas W BartstraDepartment of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Pim A de JongDepartment of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Willem P T M MaliDepartment of Radiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Krisztina FülöpInstitute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
Natália TőkésiInstitute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
Viola PomoziInstitute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
Sara RisseeuwDepartment of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Jeannette Ossewaarde-van NorelDepartment of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Redmer van LeeuwenDepartment of Ophthalmology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
András VáradiInstitute of Enzymology, Research Center for Natural Sciences, Hungarian Academy of Sciences Center of Excellence, 1117 Budapest, Hungary.
Wilko SpieringDepartment of Vascular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0002-2493-6407

Funding

National Research, Development and Innovation Office of Hungary OTKA 127933National Research, Development and Innovation Office of Hungary OTKA 127957National Research, Development and Innovation Office of Hungary PD-OTKA 123859National Research, Development and Innovation Office of Hungary PD-OTKA 128003
6 · The paper itself

Abstract

backgroundPseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations in the ABCC6 gene, and is associated with low plasma inorganic pyrophosphate (PP

methodsWe studied the association of ABCC6 genotype (192 patients with biallelic pathogenic ABCC6 mutations) and PP

resultsOur findings confirm low PP

conclusionsOur data suggest that the relationship between ABCC6 mutations and reduced plasma PP

Indexed as

ectopic mineralizationgenotype-phenotype associationplasma pyrophosphatepseudoxanthoma elasticumPXE

Identifiers

PMID36769695
PMCPMC9917606

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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.