[Albrecht, J., Garbade, S.F., Burgard, P. (2009). Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis. Neurosci. Biobehav. Rev., 33, 414-421.10.1016/j.neubiorev.2008.11.001]Search in Google Scholar
[Anonymous (2011). The GeneCards Human Gene Database, Version 3. GeneCards Homepage - Last update: 23 May 2011. http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAH]Search in Google Scholar
[Blau, N., van Spronsen, F.J., Levy, H.L. (2010). Phenylketonuria. Lancet, 376, 1417-1427.10.1016/S0140-6736(10)60961-0]Search in Google Scholar
[Cali, F., Dianzani, I., Desviat, L.R., Perez, B., Ugarte, M., Ogzuc, M., Seyrantepe, V., Shiloh, Y., Giannattasio, S., Carducci, C., Bosco, P., DeLeo, G., Piazza, A., Romano, V. (1997). The STR252 - IVSnt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples. Hum. Genet., 100, 350-355.10.1007/s004390050515]Search in Google Scholar
[DiLella, A., Marvit, J., Brayton, K., Woo, S. (1987). An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature, 327, 333-336.10.1038/327333a0]Search in Google Scholar
[Eisensmith, R.C., Woo, S.L.C. (1995a). Molecular genetics of phenylketonuria: From molecular anthropology to gene therapy. Adv. Genet. 32, 199-271.10.1016/S0065-2660(08)60206-0]Search in Google Scholar
[Eisensmith, R.C., Goltsov, A.A., O'Neill, C., Tyfield, L.A., Schwartz, E.I., Kuzmin, A., Baranovskaya, S.S., Tsukerman, G.L., Treacy, E., Scriver, C.R., Guttler, F., Guldberg, P., Eiken, H.G., Apold, J., Svensson, E., Naughten, E., Cahalane, S.F., Croke, D.T., Cockburn, F., Woo, S.L.C. (1995b). Recurrence of the R408W Mutation in the Phenylalanine Hydroxylase Locus in Europeans. Amer. J. Hum. Genet., 56, 278-286.]Search in Google Scholar
[Giannattasio, S., Lattanzio, P., Bobba, A., Marra, E. (1997). The analysis of an STR system in the human phenylalanine hydroxylase gene. Mol. Cell Probes, 11(1), 81-83.10.1006/mcpr.1996.00829076721]Search in Google Scholar
[Giannattasio, S., Dianzani, I., Lattanzio, P., Spada, M., Romano, V., Cali, F., Andria, G., Ponzone, A., Marra, E., Piazza A. (2001). Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes. Hum. Hered., 52, 154-159.10.1159/00005337111588399]Search in Google Scholar
[Goltsov, A.A., Eisensmith, R.C., Koneckit, D.S., Lichter-Konecki, U., Woo, S.L.C. (1992). Associations between Mutations and a VNTR in the Human Phenylalanine Hydroxylase Gene. Amer. J. Hum. Genet., 51, 627-636.]Search in Google Scholar
[Goltsov, A.A., Eisensmith, R.C., Naughton, E.R., Jin, L., Chakraborty, R., Woo, S.L. (1993). A single polymorphic STR system in the human phenylalanine hydroxylasegene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum. Mol. Genet., 2(5), 577-581.10.1093/hmg/2.5.5778100164]Search in Google Scholar
[Guldberg, P., Güttler, F. (1994). "Broad-range" DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene. Nucleic Acids Res., 22, 880-881.10.1093/nar/22.5.8803078968139930]Search in Google Scholar
[Harding, C.O., Blau, N. (2010). Advances and challenges in phenylketonuria. J. Inherit. Metab. Dis., 33, 645-648. DOI 10.1007/s10545-010-9247-7.10.1007/s10545-010-9247-721086047]Search in Google Scholar
[Hoedt, A.E., Sonneville, L.M.J., Francois, B., Horst, N.M., Janssen, M.C.H., Rubio-Gozalbo, M.E., Wijburg, F.A., Hollak, C. E. M., Bosch, A. M. (2011). High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: A randomised, double-blind, placebo-controlled, crossover trial. J. Inherit. Metab. Dis., 34, 165-171.10.1007/s10545-010-9253-9]Search in Google Scholar
[Jervis, G.A. (1947). Studies on phenylpyruvic oligophrenia: Position of metabolic error. J. Biol. Chem., 169, 651-656.10.1016/S0021-9258(17)30882-7]Search in Google Scholar
[Kamkar, M., Saadat, M., Saadat, I., Haghighi, G. (2003). Report of VNTR with 13 repeats linked to PAH locus in unaffected members of two PKU families. Iran Biomed. J., 7(2), 89-90.]Search in Google Scholar
[Kasnauskiene, J., Giannattasio, S., Lattanzio, P., Cimbalistiene, L., Kucinskas, V. (2003). The molecular basis of phenylketonuria in Lithuania. Hum Mutat., 21(4), 398-402.10.1002/humu.911312655550]Search in Google Scholar
[Kayaalp, E., Treacy, E., Waters, P.J., Byck, S., Nowacki, P., Scriver, C.R. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninaemia phenotypes: A metanalysis of genotype-phenotype correlations. Amer. J. Hum. Genet., 61, 1309-1317.10.1086/30163817160849399896]Search in Google Scholar
[Kidd, J.R., Kidd K.K. (2005). The Population Genetics of PAH. New York: McGraw-Hill. Revised April, 2008, from MMBID Online http://www.medgen.mcgill.ca/scriver/pah/Update/UpdateChapter77-ThePopulationGeneticsofPAH.html. DOI: http://dx.doi.org/10.1036/ommbid.100. http://www.medgen.mcgill.ca/scriver/pah/Update/UpdateChapter77-ThePopulationGeneticsofPAH.html]Search in Google Scholar
[Kozak, L., Hrabincova, E., Kintr, J., Horky, O., Zapletalova, P., Blahakova, I., Mejstrik, P., Prochazkova, D. (2006). Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement. Mol. Genet. Metab., 89, 300-309.10.1016/j.ymgme.2006.06.00716931086]Search in Google Scholar
[Latorra, D., Stern, C.M., Schanfield, M.S. (1994). Characterization of human AFLP systems apolipoprotein B, phenylalanine hydroxylase, and D1S80. PCR Methods Appl., 3, 351-358.10.1101/gr.3.6.3517920240]Search in Google Scholar
[Murphy, B.C., Scriver, C.R., Singh, S.M. (2006). CpG Methylation Accounts for a Recurrent Mutation (c.1222C>T) in the Human PAH Gene. Hum. Mutat., 27(9), 975-976.10.1002/humu.944716917891]Search in Google Scholar
[Nyhan, W.L., Barshop, B.A., Ozand, P.T. (2005). Atlas of Metabolic Diseases. 2nd edition. London: Hodder Arnold. 788 pp.]Search in Google Scholar
[O'Donnell, K.A., O'Neill, C., Tighe, O., Bertorelle, G., Naughten, E., Mayne, P. D., Croke, D.T. (2002). The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: The population history of the Irish revisited. Eur. J. Hum. Genet., 10, 530-538.10.1038/sj.ejhg.520084112173030]Search in Google Scholar
[Ounap, K., Lilleväli, H., Metspalu, A., Lipping-Sitska M. (1998). Development of the phenylketonuria screening programme in Estonia. J. Med. Screen., 5, 22-23.10.1136/jms.5.1.229575455]Search in Google Scholar
[Perez, B., Desviat, L.R., Ugarte, M. (1997). Analysis of phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers. Amer. J. Hum. Genet., 60, 95-102.]Search in Google Scholar
[Pronina, N., Giannattasio, S., Lattanzio, P., Lugovska, R., Vevere, P., Kornejeva, A. (2003). Hum. Mutat., 21(4), 398-399.10.1002/humu.911412655551]Search in Google Scholar
[Purina, G., Lugovska, R., Sokolova, L. (1995). Medical genetical service in Latvia: Developmental trends. Proceed. Latv. Acad. Sci., No. 5/6, 105-108.]Search in Google Scholar
[Scriver, C.R., Kaufman, S., Eisensmith, R.C., Woo, S.C.L. (1995). The hyperphenylalaninemias (pp. 1015-1075). In: The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (eds.) New York: McGraw-Hill.]Search in Google Scholar
[Scriver, C.R. (2007). The PAH Gene, Phenylketonuria, and a Paradigm Shift. Hum. Mutat., 28(9), 831-845.10.1002/humu.2052617443661]Search in Google Scholar
[Scriver, C.R., Levy, H., Donlon, J. (2008). Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency. In: The Online Metabolic and Molecular Bases of Inherited Diseases. Valle, D., Beaudet, A. L., Vogelstein, B., Kinzler, K.W., Antonarakis, S.E., Ballabio, A., Scriver, C.R., Sly, W.S., Childs, B. (eds.). Chapter 77. Revised April, 2008, from MMBID Online http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch77]Search in Google Scholar
[Tighe, O., Dunican, D., O'Neill, C., Bertorelle, G., Beattie, D., Graham, C., Zschocke, J., Cali, F., Romano, V., Hrabincova, E., Kozak, L., Nechyporenko, M., Livshits, L., Guldberg, P., Jurkowska, M., Zekanowski, C., Perez, B., Desviat, L.R., Ugarte, M., Kucinskas, V., Knappskog, P., Treacy, E., Naughten, E., Tyfield, L., Byck, S., Scriver, C.R., Mayne, P.D., Croke, D.T. (2003). Genetic diversity within the R408W Phenylketonuria mutation lineages in Europe. Hum. Mutat., 21, 387-393.10.1002/humu.1019512655548]Search in Google Scholar
[Williams, R.A., Mamotte, C.D.S., Burnett, J.R. (2008). Phenylketonuria: An inborn error of phenylalanine metabolism. Clin. Biochem., 29, 31-41.]Search in Google Scholar
[Woo, S.L.C., Lidsky, A., Guttler, F., Chandra, T., Robson, K. (1983). Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature, 306, 151-155.10.1038/306151a06316140]Search in Google Scholar
[Zekanowski, C., Jurkowska, M., J., Bal. (2001). Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. Human Hered., 51, 117-120.10.1159/00002295111096279]Search in Google Scholar
[Zschocke, J., Graham, C.A., McKnight, J.J., Nevin, N.C. (1994). The STR system in the human phenylalanine hydroxylase gene: True fragment length obtained with fluorescent labelled PCR primers. Acta Paediatr. Suppl., 407, 41-42.10.1111/j.1651-2227.1994.tb13447.x7766955]Search in Google Scholar
[Zschocke, J., Hoffmann G.F. (1999). Phenylketonuria mutations in Germany. Hum. Genet., 104, 390-398.10.1007/s00439005097310394930]Search in Google Scholar
[Zschocke, J. (2003). Phenylketonuria mutations in Europe. Hum. Mutat., 21, 345-356.10.1002/humu.1019212655544]Search in Google Scholar