Author:
Zerjav Tansek Mojca,Groselj Urh,Angelkova Natalija,Anton Dana,Baric Ivo,Djordjevic Maja,Grimci Lindita,Ivanova Maria,Kadam Adil,Kotori Vjosa,Maksic Hajrija,Marginean Oana,Margineanu Otilia,Miljanovic Olivera,Moldovanu Florentina,Muresan Mariana,Nanu Michaela,Samardzic Mira,Sarnavka Vladimir,Savov Aleksei,Stojiljkovic Maja,Suzic Biljana,Tincheva Radka,Tahirovic Husref,Toromanovic Alma,Usurelu Natalia,Battelino Tadej
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference35 articles.
1. Scriver CR, Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. The metabolic and molecular basis of inherited disease. New York: Mc-Graw Hill; 2001. p. 1667–724.
2. Hardelid P, Cortina-Borja M, Munro A, Jones H, Cleary M, Champion MP, et al. The birth prevalence of PKU in populations of European, South Asian and sub-Saharan African ancestry living in South East England. Ann Hum Genet. 2008;72:65–71.
3. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376:1417–27.
4. Blau N, MacDonald A, van Spronsen FJ. There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. Mol Genet Metab. 2011;104:S1.
5. Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med. 2013;15:591–9.
Cited by
32 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献