Evidence map›Paper›PMID 37509538›Full record

ArticleBiomedicines2023

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.

Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavallaro

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

Article in Biomedicines, 2023. 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
0.4field-weighted citation impact, top 39% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

10 authors at 3 institutions in 1 country.

Elisabetta Anna TendiBiomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Giovanna MorelloBiomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Maria GuarnacciaBiomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Valentina La CognataBiomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Salvatore PetraliaDepartment of Drug and Health Sciences, University of Catania, 95125 Catania, Italy.ORCID 0000-0001-5692-1130
Maria Anna MessinaRegional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
Concetta MeliRegional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
Agata FiumaraRegional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
Martino RuggieriUnit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
Sebastiano CavallaroBiomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.ORCID 0000-0001-7590-1792
Institute for Biomedical Research and Innovation · ITPoliclinico Universitario di Catania · ITUniversity of Catania · IT

Funding

This work was supported by the PO FESR SICILIA 2014-2020 grant "PKU Smart-Sensor, reali-zation and validation of a Point-of-Care system for home-testing monitoring of phenylalanine in patients suffering from hyperphenylalaninemia", ID 08RG7211000341 PO FESR SICILIA 2014-2020
6 · The paper itself

Abstract

Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS) technology may help to identify the molecular basis of this genetic disease. Herein, we describe the development and validation of a targeted NGS (tNGS) approach for the simultaneous detection of single-nucleotide changes and copy number variations (CNVs) in genes associated with HPA (

Indexed as

diagnosishyperphenylalaninemia (HPA)newborn screening (NBS)targeted next-generation sequencing (tNGS)

Identifiers

PMID37509538
PMCPMC10377317
OpenAlexW4383226417

What OpenQuestion holds

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LicenceCC BY
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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.