{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T16:13:54Z","timestamp":1789661634427,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1978,6,22]],"date-time":"1978-06-22T00:00:00Z","timestamp":267321600000},"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":[[1979,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.<\/jats:p>","DOI":"10.1007\/bf01801720","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:52:57Z","timestamp":1119916377000},"page":"59-63","source":"Crossref","is-referenced-by-count":10,"title":["Results of screening for phenylalanine and other amino acid disturbances among pregnant women"],"prefix":"10.1002","volume":"2","author":[{"given":"J.","family":"Hy\u00e1nek","sequence":"first","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Homolka","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Trnka","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Seemanov\u00e1","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"\u010cervenka","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"T\u0159esohlav\u00e1","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kapras","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Dole\u017eal","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"\u0160r\u00e1\u010dek","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"V\u00e1cha","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hoza","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Lo\u0161an","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nev\u0161\u00edmalov\u00e1","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mal\u00e1","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Viletov\u00e1","sequence":"additional","affiliation":[{"name":"Diagnostic Centre of Inborn Metabolic Errors, and Departments of Paediatrics, Medical Genetics, Obstetrics and Gynaecology, Child Neurology, Medical Faculty Charles University  Prague Czechoslovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1978,6,22]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"278","article-title":"Inhibition of bone protein synthesis by phenylalanine","volume":"112","author":"Agraval H. C.","year":"1969","journal-title":"Biochem. J."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1974.tb03401.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1542\/peds.46.2.235","article-title":"Intelligent small\u2010for\u2010dates baby born to oligophrenic phenylketonuric mother after low phenylalanine diet during pregnancy","volume":"46","author":"Arthur L. J.","year":"1970","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.49.11.835"},{"key":"e_1_2_1_6_1","first-page":"698","article-title":"Maternal hyperphenylalaninaemia in the normal and phenylketonuric mother and its influence on maternal plasma and fetal fluid amino acid concentration","volume":"79","author":"Cockburn F.","year":"1972","journal-title":"J. Obstet. Gynecol."},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196406252702602"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(70)90109-9"},{"key":"e_1_2_1_9_1","first-page":"22","article-title":"Epidemiological considerations on maternal hyperphenylalaninaemia","volume":"75","author":"Hansen H.","year":"1970","journal-title":"Am. J. Ment. Def."},{"key":"e_1_2_1_10_1","first-page":"519","article-title":"The offspring of phenylketonuric women","volume":"18","author":"Howel R. R.","year":"1971","journal-title":"Soc. Biol."},{"key":"e_1_2_1_11_1","first-page":"29","article-title":"Phenylketonuria and its variants","volume":"7","author":"Hsia D. Y. Y.","year":"1970","journal-title":"Prog. Med. Genet."},{"key":"e_1_2_1_12_1","first-page":"694","article-title":"Maternal phenylketonuria: course of two pregnancies","volume":"34","author":"Huntly C. C.","year":"1969","journal-title":"Obstet. Gynecol."},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197006252822604"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(72)90465-6"},{"key":"e_1_2_1_15_1","first-page":"337","article-title":"The problem of maternal phenylketonuria","volume":"10","author":"Pitt D.","year":"1972","journal-title":"Aust. Paediatr. J."},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/5.3.203"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(67)90035-8"},{"key":"e_1_2_1_18_1","first-page":"1973","article-title":"Maternal hyperphenylalaninemia induced experimentally: decreased incorporation of14C\u2010leucine into protein in the brain","volume":"113","author":"Takada G.","year":"1974","journal-title":"J. Exp. Med. (Tohoku)"},{"key":"e_1_2_1_19_1","first-page":"237","article-title":"Frequency of inborn errors of metabolism, especially PKU in some representative new\u2010born screening centres around the world","volume":"30","author":"Thalhammer O.","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(73)90092-6"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(16)34557-4"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)90571-4"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01801720","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01801720","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T23:43:18Z","timestamp":1694907798000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01801720"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6,22]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,9]]}},"alternative-id":["10.1007\/BF01801720"],"URL":"https:\/\/doi.org\/10.1007\/bf01801720","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,6,22]]}}}