Evidence map›Paper›PMID 29326875›Full record

ArticleMolecular genetics and metabolism reports2018

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

Elena Voskoboeva, Alla Semyachkina, Maria Yablonskaya, Ekaterina Nikolaeva

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2018. 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. Cardiovascular findings in classic homocystinuria.Molecular genetics and metabolism reports · 2020
    Article
  6. Review
  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

4 authors.

Elena VoskoboevaResearch Centre for Medical Genetics, Moscow, Russia.
Alla SemyachkinaResearch and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
Maria YablonskayaResearch and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
Ekaterina NikolaevaResearch and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the

Indexed as

Clinical presentationHomocystinuria due to cystathionine beta-synthase deficiencyMutation analysis

Identifiers

PMID29326875
PMCPMC5758839

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.