{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:14:09Z","timestamp":1784945649797,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T00:00:00Z","timestamp":1163116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (<jats:italic>PAH<\/jats:italic>) gene mutations. We investigated <jats:italic>PAH<\/jats:italic> mutations in 126 HPA patients from Southern Italy who were identified in a neonatal screening program. The promoter, coding and exon\u2010flanking intronic sequences of the <jats:italic>PAH<\/jats:italic> gene were amplified and sequenced. Mutations were identified in 240\/249 alleles (detection rate: 96.4%). We found 60 gene variants; the most frequent were p.R261Q (15.7% of alleles), p.A403V (11.6% of alleles) and c.1066\u201011G\u2003&gt;\u2003A (8.8% of alleles). The remaining mutations were rare, and ten are novel. This mutation epidemiology differs from that reported for Northern Italy and other European countries. We also identified several discordant genotype\/phenotype correlations. About two\u2010thirds of all mild phenylketonuria patients showed at least one tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>)\u2010responsive mutation, and are thus candidates for a customized therapeutic approach.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2006.00328.x","type":"journal-article","created":{"date-parts":[[2006,11,10]],"date-time":"2006-11-10T12:52:21Z","timestamp":1163163141000},"page":"185-193","source":"Crossref","is-referenced-by-count":34,"title":["Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations"],"prefix":"10.1111","volume":"71","author":[{"given":"A.","family":"Daniele","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cardillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Pennino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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