Evidence map›Paper›PMID 38731816›Full record

ArticleInternational journal of molecular sciences2024

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the

Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey V Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev and 1 more

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Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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.

Inna S TebievaNorth-Ossetian State Medical Academy, 362003 Vladikavkaz, Russia.
Polina V MishakovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0362-4818
Yulia V GabisovaRepublican Children's Clinical Hospital, 362003 Vladikavkaz, Russia.
Alana V KhokhovaRepublican Children's Clinical Hospital, 362003 Vladikavkaz, Russia.
Tamara G KaloevaNorth-Ossetian State Medical Academy, 362003 Vladikavkaz, Russia.
Andrey V MarakhonovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-0972-5118
Olga A ShchaginaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Alexander V PolyakovResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Evgeny K GinterResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Sergey I KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-3586-3458

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehensive molecular genetic analysis of 29 patients with HPA from diverse ethnic backgrounds, two major genetic variants in the

Indexed as

Phenylalanine HydroxylasePhenylketonuriasAllelesFemaleGene FrequencyHumansInfant, NewbornMaleNeonatal ScreeningPhenylalanine Hydroxylasefrequent mutationshyperphenylalaninemiaOssetian populationPAH genephenylketonuriaRepublic of North Ossetia-Alania

Identifiers

PMID38731816
PMCPMC11083185

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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.