Evidence map›Paper›PMID 30214781›Full record

ArticleClinical case reports2018

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare

Kozina A Anastasiya, Okuneva G Elena, Baryshnikova V Natalia, Krasnenko Yu Anna, Tsukanov Yu Kirill, Klimchuk I Olesya, Nikishina A Tatiana, Fedoniuk D Inessa, Surkova I Ekaterina, Shatalov A Peter and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2018. 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
0.2field-weighted citation impact, top 47% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. 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

11 authors at 5 institutions in 2 countries.

Kozina A AnastasiyaInstitute of Biomedical Chemistry Moscow Russia.
Okuneva G ElenaGenotek Ltd. Moscow Russia.
Baryshnikova V NataliaGenotek Ltd. Moscow Russia.
Krasnenko Yu AnnaGenotek Ltd. Moscow Russia.
Tsukanov Yu KirillGenotek Ltd. Moscow Russia.
Klimchuk I OlesyaGenotek Ltd. Moscow Russia.
Nikishina A TatianaVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University Moscow Russia.
Fedoniuk D InessaRussian Children's Clinical Hospital Moscow Russia.
Surkova I EkaterinaGenotek Ltd. Moscow Russia.ORCID 0000-0002-9414-4202
Shatalov A PeterGenotek Ltd. Moscow Russia.
Ilinsky V ValeryInstitute of Biomedical Chemistry Moscow Russia.
Atotech (United States) · USPirogov Russian National Research Medical University · RUInstitute of Biomedical Chemistry · RURussian Children's Clinical Hospital · RUVavilov Institute of General Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for diagnosing cystinosis in patients with neurological abnormalities before onset of nephropathic symptoms.

Indexed as

CTNS genecystineexome sequencingFanconi syndromenephropathic cystinosis

Identifiers

PMID30214781
PMCPMC6132087
OpenAlexW2886175130

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.