{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:34:21Z","timestamp":1760121261928},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1994,3,4]],"date-time":"1994-03-04T00:00:00Z","timestamp":762739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Neonatal hyperphenylalaninaemia caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) represents a wide spectrum of metabolic phenotypes, ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). The marked interindividual heterogeneity is due to the expression of multiple PAH mutations in genetic compounds. We have investigated four unusual families in which both PKU and MHP were present. In each family three different mutations in the PAH gene were identified, including two associated with PKU and one associated with MHP. The unexpected outcome of discordant phenotypes within the families described is explained by previously unrecognized parental MHP. By mutation analysis we have also predicted the phenotypical outcome in a hyperphenylalaninaemic infant born to a mother who before pregnancy had been diagnosed as having MHP. Our results demonstrate the utility of nucleic acid analysis in follow\u2010up in PKU screening programmes.<\/jats:p>","DOI":"10.1007\/bf00712004","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T05:22:31Z","timestamp":1101878551000},"page":"645-651","source":"Crossref","is-referenced-by-count":21,"title":["Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias"],"prefix":"10.1002","volume":"17","author":[{"given":"P.","family":"Guldberg","sequence":"first","affiliation":[{"name":"Danish Center for Human Genome Research The John F. Kennedy Institute  Gl. Landevej 7 Glostrup DK\u20102600 Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. L.","family":"Levy","sequence":"additional","affiliation":[{"name":"Northeast Contributing Center, Maternal PKU Collaborative Study, Division of Genetics Children's Hospital, and Harvard Medical School  Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Koch","sequence":"additional","affiliation":[{"name":"Maternal PKU Collaborative Study, Division of Clinical Genetics Children's Hospital of Los Angeles  Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"C. M.","family":"Berlin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine University Hospital, The Milton S. Hershey Medical Center  Hershey Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Francois","sequence":"additional","affiliation":[{"name":"Dr L. Willems\u2010Instituut Universitaire Campus  Diepenbeek Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. F.","family":"Henriksen","sequence":"additional","affiliation":[{"name":"Danish Center for Human Genome Research The John F. Kennedy Institute  Gl. Landevej 7 Glostrup DK\u20102600 Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"G\u00fcttler","sequence":"additional","affiliation":[{"name":"Danish Center for Human Genome Research The John F. Kennedy Institute  Gl. 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