Evidence map›Paper›PMID 39940237›Full record

ArticleNutrients2025

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Maria Chiara Consentino, Luisa La Spina, Concetta Meli, Marianna Messina, Manuela Lo Bianco, Annamaria Sapuppo, Maria Grazia Pappalardo, Riccardo Iacobacci, Alessia Arena, Michele Vecchio and 3 more

Abstract read
In one paragraph

Article in Nutrients, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

13 authors.

Maria Chiara ConsentinoPostgraduate Training Program in Pediatrics, University of Catania, 95125 Catania, Italy.
Luisa La SpinaUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.
Concetta MeliUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.
Marianna MessinaUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.ORCID 0000-0002-8652-4248
Manuela Lo BiancoUnit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Annamaria SapuppoUnit of Pediatrics and Pediatric Emergency, "AOU "Policlinico", PO "San Marco", 95100 Catania, Italy.ORCID 0000-0001-9433-026X
Maria Grazia PappalardoUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.
Riccardo IacobacciUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.
Alessia ArenaUnit of Expanded Neonatal Screening and Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, AOU "Policlinico", PO "G. Rodolico", University of Catania, 95100 Catania, Italy.ORCID 0000-0003-3049-9247
Michele VecchioRehabilitation Unit, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
Martino RuggieriUnit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.
Agata PolizziUnit of Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.ORCID 0000-0002-4865-0200
Andrea Domenico PraticòUnit of Pediatrics, Department of Medicine and Surgery, University Kore of Enna, 94100 Enna, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Association StudiesNeonatal ScreeningPhenylalanine HydroxylasePhenylketonuriasAdolescentAdultBiopterinsChildChild, PreschoolFemaleFollow-Up StudiesGenotypeHumansInfantInfant, NewbornMaleBiopterinsPhenylalaninePhenylalanine Hydroxylasesapropteringeneticsgenotype–phenotypemutationsphenylketonuria

Identifiers

PMID39940237
PMCPMC11819930

What OpenQuestion holds

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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.