Evidence map›Paper›PMID 37888103›Full record

ArticleJournal of personalized medicine2023

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.

Valentina V Miroshnikova, Petr A Vasiluev, Svetlana V Linkova, Vladislav M Soloviov, Olga N Ivanova, Ekaterina R Tolmacheva, Vasilisa Y Udalova, Polina V Baranova, Darya Y Aleksandrova, Tatiana V Strokova and 8 more

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

Article in Journal of personalized medicine, 2023. 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
1.6field-weighted citation impact, top 16% 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, 5 citations in OpenAlex.

  1. Article
  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

18 authors at 6 institutions in 1 country.

Valentina V MiroshnikovaScientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.ORCID 0000-0003-3160-2314
Petr A VasiluevResearch Center for Medical Genetics, Moscow 115522, Russia.ORCID 0000-0002-8249-343X
Svetlana V LinkovaChildren Municipal Multi-Specialty Clinical Center of High Medical Technology Named after K.A. Rauhfus, Saint-Petersburg 191036, Russia.
Vladislav M SoloviovVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow 125412, Russia.
Olga N IvanovaResearch Center for Medical Genetics, Moscow 115522, Russia.
Ekaterina R Tolmacheva"National Medical Research Center for Obstetrics, Gynecology and Perinatology" of the Ministry of Health of the Russian Federation, Moscow 117198, Russia.
Vasilisa Y UdalovaLLC "Genomed", Moscow 105005, Russia.
Polina V BaranovaResearch Center for Medical Genetics, Moscow 115522, Russia.
Darya Y AleksandrovaResearch Center for Medical Genetics, Moscow 115522, Russia.
Tatiana V StrokovaFederal Reresearch Centre of Nutrition and Biotechnology, Moscow 109240, Russia.
Irina M MiklashevichVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery, Pirogov Russian National Research Medical University, Moscow 125412, Russia.
Artem D IzumchenkoScientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.ORCID 0000-0003-2919-1878
Kseniia V DrachevaScientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.
Maria N GruninaPetersburg Nuclear Physics Institute Named by B.P. Konstantinov of National Research Centre "Kurchatov Institute", Gatchina 188300, Russia.
Nataliya N SmirnovaScientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.
Anna S KuchinaResearch Center for Medical Genetics, Moscow 115522, Russia.
Ekaterina Y ZakharovaResearch Center for Medical Genetics, Moscow 115522, Russia.
Sofya N PchelinaScientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.
Research Centre for Medical Genetics · RUFirst Pavlov State Medical University of St. Petersburg · RUPirogov Russian National Research Medical University · RUFederal Research Centre of Nutrition and Biotechnology · RUKurchatov Institute · RUNational Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation · RU

Funding

Ministry of Science and Higher Education of the Russian Federation under the strategic academic leadership program 'Priority 2030' 075-15-2023-132
6 · The paper itself

Abstract

Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially diagnosed with hypercholesterinemia. Next-generation sequencing (NGS) revealed homozygous (p.Leu572Pro/p.Leu572Pro) and compound (p.Leu572Pro/p.Gly512Arg and p.Leu572Pro/p.Trp361*) variants in the

Indexed as

ABCG8 variantsNGSphytosterolssitosterolemia

Identifiers

PMID37888103
PMCPMC10608675
OpenAlexW4387642600

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.