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Article

Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.

Journal of medical screening - 1 Jan 1999

Rottoli A, Gianní M L, Verduci E, Biondi M L, Fiori L, Giovannini M, Riva E

Abstract excerpt

OBJECTIVE: To determine whether the introduction of genetic analysis for phenylalanine hydroxylase (PAH) deficiency into regional screening programmes can be supported by the benefit-cost ratio. METHOD: Tests for the genetic PAH locus were carried out in 151 patients with hyperphenylalaninaemia originally from all of the Italian regions. PAH mutations were identified by extraction of genomic DNA from leucocytes...

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Share to Amino Acid Substitution
Share to Genetic Carrier Screening

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

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Point Mutation

Share to Sensitivity and Specificity

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Source

Identifiers

PMID: 10693064
DOI: 10.1136/jms.6.4.193

Genes

PAH

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.

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Should genetic analysis in newborn screening and a heterozygote test for hyperphenylalaninaemia be recommended? An Italian study.PMID 10693064Read ↗

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PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.Semantic proximity Read ↗

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.Semantic proximity Read ↗

Genetic analysis carried out on blood-spots of phenylalanine hydroxylase-deficient newborns detected by northeastern Italian neonatal screening.Semantic proximity Read ↗

Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.Semantic proximity Read ↗

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