Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, diabetes & metabolism - 1 Mar 2023

Rovelli Valentina, Cefalo Graziella, Ercoli Vittoria, Zuvadelli Juri, Olivia Turri, Graziani Daniela, Luisella Alberti, Bassi Davide, Re Dionigi Alice, Selmi Raed, Paci Sabrina, Salvatici Elisabetta, Banderali Giuseppe

Abstract excerpt

BACKGROUND: Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to correctly predict disease severity. The aim of this study was to give an overview of PAH mutations among one of the largest cohort of patients among Europe, born in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genotype
Share to Italy

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lipid metabolism and disorders

Share to Liver Diseases and Immunity

Share to Metabolism and Genetic Disorders

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 36537053
DOI: 10.1002/edm2.396
PMCID: PMC10000623

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.PMID 36537053Read ↗

Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine PatientsSemantic proximity Read ↗

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western RomaniaSemantic proximity Read ↗

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.Semantic proximity Read ↗

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.Semantic proximity Read ↗

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.Semantic proximity Read ↗

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.Semantic proximity Read ↗

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Semantic proximity Read ↗

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.Semantic proximity Read ↗

Analysis of PAH Genetic Variation and Phenotypic Diversity in the PAHvdb.Semantic proximity Read ↗

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey.Semantic proximity Read ↗

Mutation analysis in hyperphenylalaninemia patients from South Italy.Semantic proximity Read ↗

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.