Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy

Advances in Genetics

Volumn 32, Issue C, 1995, Pages 199-271

  Eisensmith, Randy C ^a   Woo, Savio L C ^a,b  

^a Department of Cell Biology ^*  (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

CHROMOSOME 12; GENE THERAPY; GENETIC HETEROGENEITY; GENETICS; HUMAN; METABOLISM; MUTATION; PHENYLKETONURIA; POPULATION GENETICS; REVIEW;

BIOPTERIN; CHROMOSOMES, HUMAN, PAIR 12; GENE THERAPY; GENETIC HETEROGENEITY; GENETICS, POPULATION; HUMAN; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028888322     PISSN: 00652660     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0065-2660(08)60206-0     Document Type: Article

References (325)

1. Abadie, V., Lyonnet, S., Maurin, N., Berthelon, M., Caillaud, C., Giraud, F., Mattei, J.F., Rey, J., Rey, F., Munnich, A., CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5 (1989), 936–939.
2. Abadie, V., Jaruzelska, J., Lyonnet, S., Millasseau, P., Berthelon, M., Rey, F., Munnich, A., Rey, J., Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria. Hum. Mol. Genet. 2 (1993), 31–34.
3. Abadie, V., Lyonnet, S., Melle, D., Berthelon, M., Caillaud, C., Labrune, P., Rey, F., Rey, J., Munnich, A., Molecular basis of phenylketonuria in France. Dev. Brain Dys. 6 (1993), 120–126.
4. Abita, J.-P., Blandin-Savoja, F., Rey, F., Phenylalanine hydroxylase. Evidence that the enzyme from human liver might not be a phosphoprotein. Biochem. Int. 7 (1983), 727–737.
5. Abita, J.-P., Milstien, S., Chang, N., Kaufman, S., In vitro activation of rat liver phenylalanine hydroxylase by phosphorylation. J. Biol. Chem. 251 (1976), 5310–5314.
6. Akli, S., Caillaud, C., Vigne, E., Stratford-Perricaudet, L.D., Poenaru, L., Perricaudet, M., Kahn, A., Peschanski, M.R., Transfer of a foreign gene into the brain using adenovirus vectors. Nature Genet. 3 (1993), 224–228.
7. Aoki, K., Wada, Y., Outcome of the patients detected by newborn screening in Japan. Acta Paediatr. 30 (1988), 429–434.
8. Apold, J., Eiken, H.G., Odland, E., Fredriksen, A., Bakken, A., Lorens, J.G., Bowman, H., A termination mutation prevalent in Norwegian haplotype 7 phenylketonuria genes. Am. J. Hum. Genet. 47 (1990), 1002–1007.
9. Apold, J., Eiken, H.G., Svensson, E., Kunert, E., Kozak, L., Cechak, P., Güttler, F., Giltay, J., Lichter-Konecki, U., Melle, D., Jaruzelska, J.M., The phenylketonuria G272X haplotype 7 mutation in European populations. Hum. Genet. 92 (1993), 107–109.
10. Armstrong, M.D., Brinkley, E.L. Jr., Studies on phenylketonuria. V. Observations on a newborn infant with phenylketonuria. Proc. Soc. Exp. Biol. Med. 93 (1956), 418–420.
11. Armstrong, M.D., Low, N.L., Studies on phenylketonuria. VIII. Relation between age, serum phenylalanine level and phenylpyruvic acid excretion. Proc. Soc. Exp. Biol. Med. 94 (1957), 142–146.
12. Armstrong, M.D., Tyler, F.H., Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria. J. Clin. Invest. 34 (1955), 565–580.
13. Aulehla-Scholz, C., Vorgerd, M., Sautter, E., Leupold, D., Mahlmann, R., Ullrich, K., Olek, K., Horst, J., Phenylketonuria: Distribution of DNA diagnostic patterns in German families. Hum. Genet. 78 (1988), 353–355.
14. Avigad, S., Cohen, B.E., Bauer, R., Schwartz, G., Frydman, M., Woo, S.L.C., Shiloh, Y., A single origin of phenylketonuria in Yemenite Jews. Nature 344 (1990), 168–170.
15. Avigad, S., Kleiman, S., Weinstein, M., Cohen, B.E., Schwartz, G., Woo, S.L.C., Shiloh, Y., Compound heterozygosity in nonphenylketonuria hyperphenylalaninemia: The contribution of mutations for classical phenylketonuria. Am. J. Hum. Genet. 49 (1991), 393–399.
16. Ayling, J.E., Pirson, W.D., At-Janabi, J.M., Helfand, G.D., Kidney phenylalanine hydroxylase from man and rat: Comparison with the liver enzyme. Biochemistry 13 (1974), 78–85.
17. Bajocchi, G., Feldman, S.H., Crystal, R.G., Mastrangeli, A., Direct in vivo gene transfer to ependymal cells in the central nervous system using recombinant adenovirus vectors. Nature Genet. 3 (1993), 229–234.
18. Baric, I., Mardesic, D., Gjuric, G., Sarnavka, V., Göbel-Schreiner, B., Lichter-Konecki, U., Konecki, D.S., Trefz, F., Haplotype distributions and mutations at the PAH locus in Croatia. Hum. Genet. 90 (1992), 155–157.
19. Bartholomé, K., Dresel, A., Studies on the molecular defect in phenylketonuria and hyperphenylalaninemia using antibodies against phenylalanine hydroxylase. J. Inherited Metab. Dis. 5 (1982), 7–10.
20. Bartholomé, K., Lutz, P., Bickel, H., Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediatr. Res. 9 (1975), 899–903.
21. Benit, P., Rey, F., Melle, D., Munnich, A., Rey, J., Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria. Hum. Mol. Genet. 3 (1994), 675–676.
22. Berk, K., Saugstad, L.F., A linkage study of phenylketonuria. Clin. Genet. 6 (1974), 147–152.
23. Berthelon, M., Caillaud, C., Rey, F., Labrune, P., Melle, D., Feingold, J., Frezal, J., Briard, M.-L., Farriaux, J.-P., Guibaud, P., Journel, H., Le Marec, B., Maurin, N., Nivelon, J.-L., Plauchu, H., Saudubray, J.-M., Tron, P., Rey, J., Munnich, A., Lyonnet, S., Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Hum. Genet. 86 (1991), 355–358.
24. Bick, U., Fahrendorf, G., Ludolph, A.C., Vassallo, P., Weglage, J., Ullrich, K., Disturbed myelination in patients with treated hyperphenylalaninemia: Evaluation with magnetic resonance imaging. Eur. J. Pediatr. 150 (1991), 185–189.
25. Bickel, H., Gerrard, J., Hickmans, E.M., The influence of phenylalanine intake on the chemistry and behavior of a phenylketonuria child. Acta Paediatr. Scand. 43 (1954), 64–77.
26. Bickel, H., Bachmann, C., Beckers, R., Neonatal mass screening for metabolic disorders. Eur. J. Pediatr. 137 (1981), 133–139.
27. Blaskovics, M., Guidici, T., A new variant of biopterin deficiency. N. Engl. J. Med. 319 (1988), 1611–1612.
28. Bosco, P., Ceratto, N., Romano, V., Identification of a new PKU mutation (R261 ter) by SSCP analysis. Clin. Genet., 40, 1991, 392.
29. Boyd, M.M., Phenylketonuria; City of Birmingham screening survey. Br. Med. J. 1 (1961), 771–773.
30. Byck, S., Morgan, K., John, S.W.M., Blanc, L., Bouchard, G., Scriver, C.R., Extended RFLP and HindIII specific haplotypes at the PAH (PKU) locus on chromosomes in France and Québec. Am. J. Hum. Genet., 51(Suppl.), 1992, A571.
31. Caillaud, C., Lyonnet, S., Rey, F., Melle, D., Frebourg, T., Berthelon, M., Vilarinho, L., Vaz Osorio, R., Rey, J., Munnich, A., A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria. J. Biol. Chem. 266 (1991), 9351–9354.
32. Caillaud, C., Vilarinho, L., Vilarinho, A., Rey, F., Berthelon, M., Santos, R., Lyonnet, S., Briard, M.L., Osorio, R.V., Rey, J., Munnich, A., Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal. Hum. Genet. 89 (1992), 69–72.
33. Campbell, D.G., Hardie, D.G., Vulliet, P.R., Identification of four phosphorylation sites in the N-terminal region of tyrosine hydroxylase. J. Biol. Chem. 261 (1986), 10489–10492.
34. Centerwall, W.R., Phenylketonuria. J. Am. Med. Assoc. 165 (1957), 392–397.
35. Chakraborty, R., Lidsky, A.S., Daiger, S.P., Güttler, F., Sullivan, S., DiLella, A.G., Woo, S.L.C., Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria. Hum. Genet. 76 (1987), 40–46.
36. Chen, S.-H., Hsiao, K.-J., Lin, L.-H., Liu, T.-T., Tang, R.-B., Su, T.-S., Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria. Hum. Genet. 81 (1989), 226–230.
37. Choo, K.H., Cotton, R.G.H., Danks, D.M., Jennings, I.G., Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. Biochem. J. 181 (1979), 285–294.
38. Choo, K.H., Cotton, R.G.H., Jennings, I.G., Danks, D.M., Observations indicating the nature of the mutation in phenylketonuria. J. Inherited Metab. Dis. 2 (1980), 79–84.
39. Chowdhury, N.R., Wu, C.H., Wu, G.Y., Yemeni, P.C., Bommineni, V.R., Chowdhury, J.R., Fate of DNA targeted to the liver by asialoglycoprotein receptor-mediated endocytosis. In vivo. J. Biol. Chem. 268 (1993), 11265–11271.
40. Cooper, D.N., Youssoufian, H., The CpG dinucleotide and human genetic disease. Hum. Genet. 78 (1988), 151–155.
41. Cotten, M., Wagner, E., Zatloukal, K., Phillips, S., Curiel, D.T., Birnsteil, M.L., High-efficiency receptor-mediated delivery of small and large (48 kilobase) gene constructs using the endosome-disruption activity of defective or chemically inactivated adenovirus particles. Proc. Natl. Acad. Sci. USA 89 (1992), 6094–6098.
42. Crawfurd, M., Gibbs, D., Sheppard, D., Studies on human phenylalanine mono-oxygenase: Restricted expression. J. Inherited Metab. Dis. 4 (1981), 191–195.
43. Cristiano, R.J., Smith, L.C., Kay, M.A., Brinkley, B., Woo, S.L.C., Hepatic gene therapy: efficient gene delivery and expression in primary hepatocytes utilizing a conjugated adenovirus/DNA complex. Proc. Natl. Acad. Sci. USA 90 (1993), 11548–11552.
44. Cristiano, R., Smith, L.C., Woo, S.L.C., Hepatic gene therapy: Adenovirus enhancement of receptor-mediated gene delivery and expression in primary hepatocytes. Proc. Natl. Acad. Sci. USA 90 (1993), 2122–2127.
45. Curiel, D.T., Agarwal, S., Romer, M.U., Wagner, E., Cotten, M., Birnstiel, M.L., Boucher, R.C., Gene transfer to respiratory epithelial cells via the receptor-mediated endocytosis pathway. Am. J. Respir. Cell. Mol. Biol. 6 (1992), 247–252.
46. Curiel, D.T., Agarwal, S., Wagner, E., Cotten, M., Adenovirus enhancement of transferrin/polylysine-mediated gene delivery. Proc. Natl. Acad. Sci. USA 88 (1991), 8850–8854.
47. Dahl, H.-H., Mercer, J.F.B., Isolation and sequence of a cDNA clone which contains the complete coding region of rat phenylalanine hydroxylase. Structural homology with tyrosine hydroxylase, glucocorticoid regulation, and use of alternate polyadenylation sites. J. Biol. Chem. 261 (1986), 4148–4153.
48. Daiger, S.P., Lidsky, A.S., Chakraborty, R., Koch, R., Guttler, R., Woo, S.L.C., Effective use of polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in prenatal diagnosis of phenylketonuria. Lancet 1 (1986), 229–232.
49. Daiger, S.P., Chakraborty, R., Reed, L., Fekete, G., Schuler, D., Berencsi, G., Nasz, I., Brdicka, R., Kamaryt, J., Pijackova, A., Moore, S., Sullivan, S., Woo, S.L.C., Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU). Am. J. Hum. Genet. 45 (1989), 310–318.
50. Daiger, S.P., Reed, L., Huang, S.-Z., Zeng, Y.-T., Wang, T., Lo, W.H.Y., Okano, Y., Hase, Y., Fukuda, Y., Oura, T., Tada, K., Woo, S.L.C., Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU). Am. J. Hum. Genet. 45 (1989), 319–324.
51. Dasovich, M., Konecki, D., Lichter-Konecki, U., Eisensmith, R.C., Güttler, F., Naughton, E., Mullins, C., Woo, S.L.C., Molecular characterization of a PKU allele prevalent in Southern Europe and Ireland. Som. Cell. Mol. Genet. 17 (1991), 303–309.
52. Davidson, B.L., Allen, E.D., Kozarsky, K.F., Wilson, J.M., Roessler, B.J., A model system for in vivo gene transfer into the central nervous system using an adenoviral vector. Nature Genet. 3 (1993), 219–223.
53. Desviat, L.R., Perez, B., Ugarte, M., Phenylketonuria in Spain: RFLP haplotypes and linked mutations. Hum. Genet. 92 (1993), 254–258.
54. Dhondt, J.L., Farriaux, J.P., Boudha, A., Largilliere, C., Ringel, J., Roger, M.M., Leeming, R.J., Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphatecyclohydrolase activity. J. Pediatr. 106 (1985), 954–956.
55. Dhondt, J.L., Guilbaud, P., Rolland, M., Dorche, C., Andre, S., Forzy, G., Hayte, J., Neonatal hyperphenylalaninemia presumably caused by a new variant of biopterin synthetase deficiency. Eur. J. Pediatr. 147 (1988), 153–157.
56. Dianzani, I., De Sanctis, L., Ferrero, G.B., Alliaudi, C., Ponzone, A., Camaschella, C., Molecular analysis of phenylketonuria in Italy. Am. J. Hum. Genet., 51(Suppl.), 1992, A1374.
57. Dianzani, I., Devoto, M., Camaschella, C., Saglio, G., Ferrero, G.B., Cerone, R., Romano Romeo, C.G., Giovannini, M., Riva, E., Angeneydt, E., Trefz, F.K., Okano, Y., Woo, S.L.C., Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. Hum. Genet. 86 (1990), 69–72.
58. Dianzani, I., Forrest, S.M., Camaschella, C., Saglio, G., Ponzone, A., Cotton, R.G.H., Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: A new splice mutation. Am. J. Hum. Genet. 48 (1991), 631–635.
59. DiLella, A.G., Huang, W.M., Woo, S.L.C., Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet 1 (1988), 497–499.
60. DiLella, A.G., Marvit, J., Brayton, K., Woo, S.L.C., An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 327 (1987), 333–336.
61. DiLella, A.G., Kwok, S.C.M., Ledley, F.D., Marvit, J., Woo, S.L.C., Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25 (1986), 743–749.
62. DiLella, A.G., Marvit, J., Lidsky, A.S., Guttler, F., Woo, S.L.C., Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322 (1986), 799–803.
63. DiLella, A.G., Ledley, F.D., Rey, F., Munnich, A., Woo, S.L.C., Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria. Lancet 1 (1985), 160–161.
64. DiSilvestre, D., Koch, R., Groffen, J., Different clinical manifestations in three siblings with identical phenylalanine hydroxylase genes. Am. J. Hum. Genet. 48 (1991), 1014–1016.
65. Donlon, J., Kaufman, S., Glucagon stimulation of rat hepatic phenylalanine hydroxylase through phosphorylation in vivo. J. Biol. Chem. 253 (1978), 6657–6659.
66. Dworniczak, B., Aulehla-Scholz, C., Horst, J., Phenylketonuria: Detection of a frequent haplotype 4 allele mutation. Hum. Genet. 84 (1989), 95–96.
67. Dworniczak, B., Aulehla-Scholz, C., Kalaydjieva, L., Ullrich, K., Bartholomé, K., Grudda, K., Horst, J., Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of Southern Europe. Genomics 11 (1991), 242–246.
68. Dworniczak, B., Grudda, K., Stümper, J., Bartholomé, K., Aulehla-Scholz, C., Horst, J., Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria. Genomics 9 (1991), 193–199.
69. Dworniczak, B., Kalaydjieva, L., Aulehla-Scholz, C., Ullrich, K., Kremensky, I., Radeva, B., Horst, J., Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene. Hum. Genet. 87 (1991), 731–733.
70. Dworniczak, B., Wedemeyer, N., Eigel, A., Horst, J., PCR detection of the Pvull (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res., 19, 1991, 1958.
71. Dworniczak, B., Wedemeyer, N., Horst, J., PCR detection of the BgIII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res., 19, 1991, 1958.
72. Dworniczak, B., Kalaydjieva, L., Pankoke, S., Aulehla-Scholz, C., Allen, G., Horst, J., Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?. Hum. Mutot. 1 (1992), 138–146.
73. Economou-Petersen, E., Henriksen, K.F., Guldberg, P., Güttler, F., Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 14 (1992), 1–5.
74. Eigel, A., Dworniczak, B., Kalaydjieva, L., Horst, J., A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1. Hum. Genet. 87 (1991), 739–741.
75. Eiken, H.G., Knappskog, P.M., Apold, J., Skjelkvåle, L., Boman, H., A de novo phenylketonuria mutation: ATG (Met) to ATA (He) in the start codon of the phenylalanine hydroxylase gene. Hum Mutat. 1 (1992), 388–391.
76. Eiken, H.G., Strangeland, K., Skjelkvale Knappskog, P., Boman, H., Apold, J., PKU mutations R408Q and F299C in Norway: Haplotype associations, geographical distributions and phenotype characteristics. Hum. Genet. 88 (1992), 608–612.
77. Eiken, H.G., Knappskog, P., Boman, H., Motzfeldt, R., Apold, J., Prevalence and geographic distribution of PKU mutations in Norway. 25Th Annu. Meeting Eur. Soc. Hum. Gene., 1993, A211.
78. Eisensmith, R.C., Woo, S.L.C., Phenylketonuria and the phenylalanine hydroxylase gene. Mol. Biol. Med. 8 (1991), 3–18.
79. Eisensmith, R.C., Woo, S.L.C., Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum. Mutat. 1 (1992), 13–23.
80. Eisensmith, R.C., Woo, S.L.C., Undated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am. J. Hum. Genet. 51 (1992), 1445–1448.
81. Eisensmith, R.C., Goltsov, A.A., Woo, S.L.C., A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria. Prenatal Diag., 1994 in press.
82. Eisensmith, R.C., Okano, Y., Dasovich, M., Wang, T., Güttler, F., Lichter-Konecki, U., Konecki, D.S., Svensson, E., Hagenfeldt, L., Rey, F., Munnich, A., Lyonnet, S., Cockburn, F., Conner, J.M., Pembrey, M.E., Smith, I., Gitzelmann, R., Steinmann, B., Apold, J., Eiken, H.G., Giovannini, M., Riva, E., Longhi, R., Romano, C., Cerone, R., Naughten, E.R., Mullins, C., Cahalane, S., Ozalp, I., Fekete, G., Schuler, D., Berencsi, G.Y., Nász, I., Brdicka, R., Kamaryt, J., Pijackova, A., Cabalska, B., Bozkowa, K., Schwartz, E., Kalinin, V.N., Jin, L., Chakraborty, R., Woo, S.L.C., Multiple origins for phenylketonuria in Europe. Am. J. Hum. Genet. 51 (1992), 1355–1365.
83. Eisensmith, R.C., Wang, T., Dasovich, M., Okano, Y., Woo, S.L.C., Molecular basic of phenylketonuria (PKU). Am. J. Hum. Genet., 49(Suppl.), 1991, A455.
84. European Working Group on CF Genetics. Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum. Genet. 85 (1990), 436–441.
85. Fang, B., Eisensmith, R.C., Li, X.H.C., Finegold, M.J., Shedlovsky, A., Dove, W., Woo, S.L.C., Gene therapy for phenylketonuria: Phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther. 1 (1994), 241–254.
86. Ferry, N., Duplessis, O., Houssin, D., Danos, O., Heard, J.-M., Retroviral-mediated gene transfer into hepatocytes in vivo. Proc. Natl. Acad. Sci. USA 88 (1991), 8377–8381.
87. Foiling, A., Utskillelse av fenylpyrodruesyre i urinen som stoffskifteanomali i forbindelse med imbecillitet. Nord. Med. Tidskr. 8 (1934), 1054–1059.
88. Fölling, A., Über Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Ztschr. Physiol. Chem. 227 (1934), 169–176.
89. Forrest, S.M., Dahl, H.-H., Howells, D.W., Dianzani, I., Cotton, R.G.H., Mutation detection in phenylketonuria using chemical cleavage of mismatch: Importance of using probes from both normal and patient samples. Am. J. Hum. Genet. 49 (1991), 175–183.
90. Friedman, P.A., Kaufman, S., Some characteristics of partially purified human liver phenylalanine hydroxylase. Biochim. Biophys. Acta 293 (1973), 56–61.
91. Garrod, A.E., Inborn errors of metabolism. Lancet 2 (1908), 1–7 73–79, 142–148, 214–220.
92. Gibbs, N.K., Woolf, L.I., Tests for phenylketonuria: Results of a one-year programme for its detection in infancy and among mental defectives. Br. Med. J. 2 (1959), 532–535.
93. Gilardi, P., Courtney, M., Pairani, A., Perricaudet, M., Expression of human alpha-1-antitrypsin using a recombinant adenovirus vector. FEBS Lett. 267 (1990), 60–62.
94. Goebel-Schreiner, B., Schreiner, R., Identification of a new missense mutation in Japanese phenylketonuric patients. J. Inher. Metab. Dis. 16 (1993), 950–956.
95. Gold, R.J.M., Maag, U.R., Neal, J.L., Scriver, C.R., The use of biochemical data in screening for mutant alleles and in genetic counseling. Ann. Hum. Genet. 37 (1974), 315–326.
96. Goldstein, J.L., Brown, M.S., Anderson, R.G.W., Russell, D.W., Schneider, W.J., Receptor-mediated endocytosis: Concepts emerging from the LDL receptor system. Annu. Rev. Cell Biol. 1 (1985), 1–39.
97. Goltsov, A.A., Eisensmith, R.C., Konecki, D.S., Lichter-Konecki, U., Woo, S.L.C., Linkage disequilibrium between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 51 (1992), 627–636.
98. Goltsov, A.A., Eisensmith, R.C., Woo, S.L.C., Detection of the XmnI RFLP at the human phenylalanine hydroxylase locus by PCR. Nucleic Acids Res., 20, 1992, 927.
99. Goltsov, A.A., Eisensmith, R.C., Naughten, E.R., Woo, S.L.C., A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum. Mol. Genet. 2 (1993), 577–581.
100. Gottschalk, S., Cristiano, R.J., Smith, L.C., Woo, S.L.C., Folare-mediated DNA delivery into tumor cells: Potosomal disruption results in enhanced gene expression. Gene Ther. 1 (1994), 185–191.
101. Gregory, D.M., Sovetts, D., Clow, C.L., Scriver, C.R., Plasma free amino acid values in normal children and adolescents. Metabolism 35 (1986), 967–969.
102. Grenett, H.E., Ledley, F.D., Reed, L.L., Woo, S.L.C., Full-length cDNA for rabbit tryptophan hydroxylase: Functional domains and evolution of aromatic amino acid hydroxylases. Proc. Natl. Acad. Sci. USA 4 (1987), 5530–5534.
103. Grossman, M., Raper, S.E., Kozarsky, K., Stein, E.A., Engelhardt, J.F., Muller, D., Lupien, P.J., Wilson, J.M., Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolemia. Nature Genet. 6 (1994), 335–341.
104. Guldberg, P., Güttler, F., A simple method for identification of point mutations using denaturing gradient gel electrophoresis. Nucleic Acids Res. 21 (1993), 2261–2262.
105. Guldberg, P., Henriksen, K.F., Güttler, F., Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17 (1993), 141–146.
106. Guldberg, P., Lou, H.C., Henriksen, K.F., Mikkelsen, I., Olsen, B., Holck, B., Güttler, F., A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia. Hum. Mol. Genet. 2 (1993), 1061–1062.
107. Guldberg, P., Romano, V., Ceratto, N., Bosco, P., Ciuna, M., Indelicato, A., Mollica, F., Meli, C., Giovannini, M., Riva, E., Biasucci, G., Henriksen, K.F., Güttler, F., Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: Implications for diagnosis of hyperphenylalaninemia in Southern Europe. Hum. Mol. Genet. 2 (1993), 1703–1707.
108. Gupta, S., Aragona, E., Vemuru, R.P., Bhargava, K.K., Burk, R.D., Chowdhury, J.R., Permanent engraftment and function of hepatocytes delivered to the liver: Implications for gene therapy and liver repopulation. Hepatology 14 (1991), 144–149.
109. Guthrie, R., Blood screening for phenylketonuria. JAMA, 178, 1961, 863.
110. Guthrie, R., Susi, A., A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32 (1963), 338–343.
111. Güttler, F., Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. 280:Suppl. (1980), 1–80.
112. Güttler, F., Guldberg, P., Henriksen, K.F., Mutation genotype of mentally retarded patients with phenylketonuria. Dev. Brain Dys. 6 (1993), 92–96.
113. Guttler, F., Guldberg, P., Henriksen, K.F., Mikkelsen, I., Olsen, B., Lou, H., Molecular basis for the phenotypical diversity of phenylketonuria and related hyper-phenylalaninemias. J. Inher. Metab. Dis. 16 (1993), 602–604.
114. Güttler, F., Ledley, F.D., Lidsky, A.S., DiLella, A.G., Sullivan, S.E., Woo, S.L.C., Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J. Pediatr. 110 (1987), 68–71.
115. Haan, E.A., Jennings, I.G., Cuello, A.C., Nakata, H., Fujisawa, H., Chow, C.W., Kushinsky, R., Brittingham, J., Cotton, R.G.H., Identification of serotonergic neurons in human brain by a monoclonal antibody binding to all three aromatic amino acid hydroxylases. Brain Res. 426 (1987), 19–27.
116. Herrmann, F., Wulff, K., Wehnert, M., Siedlitz, G., Güttler, F., Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic. Clin. Genet. 34 (1988), 176–180.
117. Hertzberg, M., Jahromi, K., Ferguson, V., Dahl, H.-H.M., Mercer, J., Mickleson, K.N.P., Trent, R.J., Phenylalanine hydroxylase gene haplotypes in Polynesians: Evolutionary origins and absence of alleles associated with severe phenylketonuria. Am. J. Hum. Genet. 44 (1989), 382–387.
118. Herz, J., Gerard, R.D., Adenovirus-mediated transfer of low density lipoprotein receptor gene acutely accelerates cholesterol clearance in normal mice. Proc. Natl. Acad. Sci. USA 90 (1993), 2812–2816.
119. Hoeben, R.C., Valerio, D., van der Eb, A.J., van Ormondt, H., Gene therapy for human inherited disorders: Techniques and status. Crit. Rev. Oncol. 13 (1992), 33–54.
120. Hofman, K.J., Antonarakis, S.E., Missiou-Tsangaraki, S., Boehm, C.D., Valle, D., Phenylketonuria in the Greek population. Mol. Biol. Med. 6 (1989), 245–250.
121. Hofman, K.J., Steel, G., Kazazian, H.H., Valle, D., Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 48 (1991), 791–798.
122. Hommes, F.A., The effect of hyperphenylalaninemia on the muscarinic acetylcholine receptor in the HPH-5 mouse brain. J. Inherited Metab. Dis. 16 (1993), 962–974.
123. Horst, J., Eigel, A., Auleha-Scholz, C., Kalaydjieva, L., Zygulska, M., Kunert, E., Dworniczak, B., Molecular basis of phenylketonuria: Report of an extensive study of various Caucasian populations. Am. J. Hum. Genet., 49(Suppl.), 1991, A2302.
124. Horst, J., Eigel, A., Kalaydjieva, L., Dworniczak, B., Phenylketonuria in Germany—Molecular heterogeneity and diagnostic implications. Dev. Brain Dys. 6 (1993), 32–38.
125. Huang, S.-Z., Ren, Z.-R., Zeng, Y.-T., Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria. J. Med. Genet. 27 (1990), 65–66.
126. Ishibashi, S., Brown, M.S., Goldstein, J.L., Gerard, R.D., Hammer, R.E., Herz, J., Hypercholesterolemia in LDL receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J. Clin. Invest 92 (1993), 883–893.
127. Iwaki, M., Philips, R.S., Kaufman, S., Proteolytic modification of the amino-terminal and carboxyl-terminal regions of rat hepatic phenylalanine hydroxylase. J. Biol. Chem. 261 (1986), 2051–2056.
128. Jaffe, H.A., Daniel, C., Longenecker, M., Metzger, M., Setoguchi, Y., Rosenfeld, M.A., Gant, T.W., Thorgeirsson, S.S., Stratford-Perricaudet, L.D., Perricaudet, M., Pavirani, A., Lecocq, J.P., Crystal, R.G., Adenovirus-mediated in vivo gene transfer and expression in normal rat liver. Nature Genet. 1 (1992), 372–378.
129. Jaruzelska, J., Abadie, V., Marie, J., Lyonnet, S., Brody, E., Rey, F., Rey, J., Munnich, A., Illegitimate transcription and in vitro splicing of PAH mRNA in a PKU patient carrying an intron point mutation that causes skipping of exon 11. Am. J. Hum. Genet., 51(Suppl.), 1992, A1385.
130. Jaruzelska, J., Matuszak, R., Lyonnet, S., Rey, F., Rey, J., Filipowicz, J., Borski, K., Munnich, A., Genetic background of clinical heterogeneity of phenylketonuria in Poland. J. Med. Genet. 30 (1993), 232–234.
131. Jaruzelska, J., Melle, D., Matuszak, R., Borski, K., Munnich, A., A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. Hum. Mol. Genet. 1 (1993), 763–764.
132. Jennings, I., Cotton, R., Structural similarities among enzyme pterin binding sites as demonstrated by a monoclonal anti-idiotypic antibody. J. Biol. Chem. 265 (1990), 1885–1889.
133. Jennings, I.G., Kemp, B.E., Cotton, R.G.H., Localization of cofactor binding sites with monoclonal anti-idiotype antibodies: Phenylalanine hydroxylase. Proc. Natl. Acad. Sci. USA 88 (1991), 5734–5738.
134. Jervis, G.A., The genetics of phenylpyruvic oligophrenia. (A contribution to the study of the influence of heredity on mental defect.). J. Ment. Sci. (London) 85 (1939), 719–762.
135. Jervis, G.A., Studies on phenylpyruvic oligophrenia. The position of the metabolic error. J. Biol. Chem. 169 (1947), 651–656.
136. Jervis, G.A., Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc. Soc. Exp. Biol. Med. 82 (1953), 514–515.
137. Jervis, G.A., Phenylpyruvic oligophrenia (phenylketonuria). A. Res. Nerv. Ment. Dis. 35 (1954), 259–282.
138. Jervis, G.A., Block, R.J., Bolling, D., Kanze, L., Phenylalanine content of blood and spinal fluid in phenylpyruvic oligophrenia. J. Biol. Chem. 134 (1940), 105–113.
139. John, S. W. M. (1991). Haplotypes and mutations at the phenylalanine hydroxylase locus in French Canadians. Thesis, McGill University, Montreal, Canada.
140. John, S.W.M., Rozen, R., Laframboise, R., Laberge, C., Scriver, C.R., RFLP haplotypes associated with hyperphenylalaninemia alleles at the phenylalanine hydroxylase (PAH) locus in French-Canadians. Am. J. Hum. Genet., 43(Suppl), 1988.
141. John, S.W.M., Rozen, R., Laframboise, R., Laberge, C., Scriver, C.R., Novel PKU mutation on haplotype 2 in French-Canadians. Am. J. Hum. Genet. 45 (1989), 905–909.
142. John, S.W.M., Rozen, R., Scriver, C.R., Laframboise, R., Laberge, C., Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: Evidence in French-Canadians and a catalog of mutations. Am. J. Hum. Genet. 46 (1990), 970–974.
143. John, S.W.M., Scriver, C.R., Laframboise, R., Rozen, R., In vitro and in vivo correlations for the 165T and M1V mutations at the phenylalanine hydroxylase locus. Hum. Mutat. 1 (1992), 147–153.
144. Kalaydjieva, L., Dworniczak, B., Aulehla-Scholz, C., Kremensky, I., Bronzova, J., Eigel, A., Horst, J., Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. J. Med. Genet. 27 (1990), 742–745.
145. Kalaydjieva, L., Dworniczak, B., Aulehla-Scholz, C., Devoto, M., Romeo, G., Sturhmann, M., Horst, J., Phenylketonuria mutation in southern Europeans. Lancet, 337, 1991, 865.
146. Kalaydjieva, L., Dworniczak, B., Aulehla-Scholz, C., Devoto, M., Romeo, G., Sturhmann, M., Kucinskas, V., Yurgelyavicius, V., Horst, J., Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria. J. Med. Genet. 28 (1991), 686–690.
147. Kalaydjieva, L., Dworniczak, B., Kucinskas, V., Yurgeliavicius, V., Kunert, E., Horst, J., Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum. Genet. 86 (1991), 411–413.
148. Kalaydjieva, L., Dworniczak, B., Kremensky, I., Koprivarova, R., Radeva, B., Milusheva, R., Aulehla-Scholz, C., Horst, J., Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. Clin. Genet. 41 (1992), 123–128.
149. Kalaydjieva, L., Dworniczak, B., Kremensky, I., Radeva, B., Horst, J., Population genetics of phenylketonuria in Bulgaria. Dev. Brain Dys. 6 (1993), 39–45.
150. Kaleko, M., Garcia, J.V., Miller, A.D., Persistent gene expression after retroviral gene transfer into liver cells. In vivo. Hum. Gene Ther. 2 (1991), 27–32.
151. Kamaryt, J., Mrskos, A., Podhradska, D., Kolcova, V., Cabalska, B., Duczynska, N., Borzymowska, J., PKU locus: Genetic linkage with human amylase (Amy) loci and assignment to linkage group I. Hum. Genet. 43 (1978), 205–210.
152. Kang, E.S., Kaufman, S., Gerald, P.S., Clinical and biochemical observations of patients with atypical phenylketonuria. Pediatrics 45 (1970), 83–92.
153. Kaufman, S., A new cofactor required for the enzymatic conversion of phenylalanine to tyrosine. J. Biol. Chem. 230 (1958), 931–939.
154. Kaufman, S., Phenylalanine hydroxylation cofactor in phenylketonuria. Science 128 (1958), 1506–1508.
155. Kaufman, S., Studies on the mechanism of the enzymatic conversion of phenylalanine to tyrosine. J. Biol. Chem. 234 (1959), 2677–2682.
156. Kaufman, S., The structure of the phenylalanine-hydroxylation cofactor. Proc. Natl. Acad. Sci. USA 50 (1963), 1085–1093.
157. Kaufman, S., A protein that stimulates rat liver phenylalanine hydroxylase. J. Biol. Chem. 245 (1970), 4751–4759.
158. Kaufman, S., Berlow, S., Summer, G.K., Milstein, S., Schulman, J.D., Orloff, S., Spielberg, S., Pueschel, S., Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. N. Engl. J. Med 299 (1978), 673–679.
159. Kaufman, S., Holtzman, N.A., Milstein, S., Butler, I.J., Krumholtz, A., Phenylketonuria due to a deficiency of dihydropteridine reductase. N. Engl. J. Med. 293 (1975), 785–790.
160. Kaufman, S., Max, E.E., Kang, E.S., Phenylalanine hydroxylase activity in liver biopsies from hyperphenylalaninemia heterozygotes: Deviation from proportionality with gene dosage. Pediatr. Res. 9 (1975), 632–634.
161. 1-antitrypsin in dogs after autologous transplantation of retroviral transduced hepatocytes. Proc. Natl. Acad. Sci. USA 89 (1992), 89–93.
162. 1-antitrypsin in mice after direct gene delivery in vivo. Hum. Gene Ther. 3 (1992), 641–647.
163. Kay, M.A., Rothenberg, S., Landen, C., Bellinger, D., Leland, F., Toman, C., Finegold, M., Thompson, A., Read, M., Brinkhous, K., Woo, S.L.C., In vivo gene therapy of hemophilia B: Sustained partial correction in factor IX deficient dogs. Science 262 (1993), 117–119.
164. Kleiman, S., Bernstein, J., Schwartz, G., Eisensmith, R.C., Woo, S.L.C., Shiloh, Y., A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. Hum. Mutat. 1 (1991), 340–343.
165. Kleiman, S., Schwartz, G., Woo, S.L.C., Shiloh, Y., A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family. Hum. Mutat. 1 (1992), 344–346.
166. Kleiman, S., Li, J., Schwartz, G., Eisensmith, R.C., Woo, S.L.C., Shiloh, Y., Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria. Hum. Mol. Genet. 2 (1993), 605–606.
167. Koch, R., Azen, C., Friedman, E.G., Williamson, M.L., Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age. J. Inher. Metab. Dis. 7 (1984), 86–90.
168. Konecki, D.S., Schlotter, M., Trefz, F.K., Lichter-Konecki, U., The identification of two mis-sense mutations at the PAH gene in a Turkish patient with phenylketonuria. Hum. Genet. 87 (1991), 389–393.
169. Kotake, Y., Masai, Y., Mori, Y., Über das Verhalten des Phenylalanins im tierischen Organismus. Ztschr. Physiol. Chem., 122, 1922, 195.
170. Kwok, S.C.M., Ledley, F.D., DiLella, A.G., Robson, K.J.H., Woo, S.L.C., Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24 (1985), 556–561.
171. Labrune, P., Melle, D., Rey, F., Berthelon, M., Caillaud, C., Rey, J., Munnich, A., Lyonnet, S., Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. Am. J. Hum. Genet. 48 (1991), 1115–1120.
172. Langenbeck, U., Lukas, H.D., Mench-Holinowski, A., Stenzig, K.P., Lane, J.D., Correlative study of mental and biochemical phenotypes in never treated patients with classical phenylketonuria. Brain Dys. 1 (1988), 103–110.
173. Lazarus, R.A., Benkovic, S.J., Kaufman, S., Phenylalanine hydroxylase stimulator protein is a 4α-carbinolamine dehydratase. J. Biol. Chem. 258 (1983), 10960–10962.
174. Le Salle Gal La, G., Robert, J.J., Berrard, S., Ridoux, V., Stratford-Perricaudet, L.D., Perricaudet, M., Mallet, J., An adenovirus vector for gene transfer into neurons and glia in the brain. Science 259 (1993), 988–990.
175. Leamon, C.P., Low, P.S., Delivery of macromolecules into living cells: A method that exploits folate receptor endocytosis. Proc. Natl. Acad. Sci. USA 88 (1991), 5572–5576.
176. Leamon, C.P., Low, P.S., Cytoxicity of momordin-folate conjugates in cultured human cells. J. Biol. Chem. 267 (1993), 24966–24971.
177. Leandro, P., Rivera, I., Ribeiro, V., Tavares De Almeida, I., Lechner, M.C., Sequencing analysis of PAH genomic DNA reveals 4 novel mutations affecting exons 7 and 11 in a Portugese PKU population. Abstr. SSIEM, Manchester., 1993.
178. Ledley, F.D., DiLella, A.G., Kwok, S.C.M., Woo, S.L.C., Homology between phenylalanine hydroxylase and tyrosine hydroxylase reveals common structural and functional determinants. Biochemistry 24 (1985), 3389–3394.
179. Ledley, F.D., Grenett, H.E., DiLella, A.G., Kwok, S.C.M., Woo, S.L.C., Gene transfer and expression of human phenylalanine hydroxylase. Science 228 (1985), 77–79.
180. Ledley, F.D., Grenett, H., McGinnis-Shelnutt, M., Woo, S.L.C., Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells. Proc. Natl. Acad. Sci. USA 83 (1986), 409–413.
181. Ledley, F.D., Levy, H.L., Woo, S.L.C., Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N. Engl. J. Med. 314 (1986), 1276–1280.
182. Lenke, R.R., Levy, H.L., Maternal phenylketonuria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated pregnancies. N. Engl. J. Med. 303 (1980), 1202–1208.
183. Levrero, M., Barban, V., Manteca, S., Ballay, A., Balsamo, C., Avantaggiati, M.L., Natoli, G., Skellekens, H., Tiollais, P., Perricaudet, M., Defective and nondefective adenovirus vectors for expressing foreign genes in vitro and in vivo. Gene 101 (1991), 195–202.
184. Li, J., Eisensmith, R.C., Wang, T., Lo, W.H.Y., Huang, S.-Z., Zeng, Y.-T., Yuan, L.-F., Liu, S.-R., Woo, S.L.C., Identification of three novel missense PKU mutations among Chinese. Genomics 13 (1992), 894–895.
185. Li, J., Eisensmith, R.C., Wang, T., Lo, W.H.Y., Huang, S.-Z., Zeng, Y.-T., Yuan, L.-F., Liu, S.-R., Woo, S.L.C., Phenylketonuria in China: Characterization of three novel mutations in the human phenylalanine hydroxylase gene. Hum. Mutat. 3 (1994), 312–314.
186. Li, Q.-T., Kay, M., Finegold, M., Stratford-Perricaudet, L., Woo, S.L.C., Assessment of recombinant adenoviral vectors for hepatic gene therapy. Hum. Gene Ther. 4 (1993), 403–409.
187. Lichter-Konecki, U., Konecki, D.S., DiLella, A.G., Brayton, K., Marvit, J., Hahn, T.M., Trez, F.K., Woo, S.L.C., Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase gene. Biochemistry 27 (1988), 2881–2885.
188. Lichter-Konecki, U., Schlotter, M., Konecki, D.S., Labeit, S., Woo, S.L.C., Trefz, F.K., Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Hum. Genet. 78 (1988), 347–352.
189. Lichter-Konecki, U., Schlotter, M., Yaylak, C., Özgüĉ, M., Çoskun, T., Özalp, I., Wendel, U., Batzler, U., Trefz, F.K., Konecki, D., DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population. Hum. Genet. 81 (1989), 373–376.
190. Lidsky, A.S., Güttler, F., Woo, S.L.C., Prenatal diagnosis of classical phenylketonuria by DNA analysis. Lancet 1 (1985), 549–551.
191. Lidsky, A.S., Law, M.L., Morse, H.G., Kao, F.T., Woo, S.L.C., Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc. Natl. Acad. Sci. USA 82 (1985), 6221–6225.
192. Lidsky, A., Ledley, F.D., DiLella, A.G., Kwok, S.C.M., Daiger, S.P., Robson, K.J.H., Woo, S.L.C., Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am. J. Hum. Genet. 37 (1985), 619–634.
193. Lidsky, A.S., Robson, K., Thirumalachary, C., Barker, P., Ruddie, F., Woo, S.L.C., The PKU locus in man is on chromosome. 12. Am. J. Hum. Genet. 36 (1984), 527–533.
194. Lin, C.-H., Hsiao, K.-J., Tsai, T.-F., Chao, H.-K., Su, T.-S., Identification of a missense phenylketonuria mutation at codon 408 in Chinese. Hum. Genet. 89 (1992), 593–596.
195. Liu, S.-R., Zuo, Q.-H., Newborn screening for phenylketonuria in eleven districts. Chi. Med. J. 99 (1986), 113–118.
196. Liu, T.-J., Kay, M.A., Darlington, G.J., Woo, S.L.C., Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice. Somat. Cell. Mol. Genet. 18 (1992), 89–96.
197. Lyonnet, S., Caillaud, C., Rey, F., Berthelon, M., Frezal, J., Rey, J., Munnich, A., Molecular genetics of phenylketonuria in Mediterranean countries: A mutation associated with partial phenylalanine hydroxylase deficiency. Am. J. Hum. Genet. 44 (1989), 511–517.
198. Lyonnet, S., Melle, D., De Braekeleer, M., Laframboise, R., Rey, F., John, S.W.M., Berthelon, M., Berthelot, J., Journel, H., Le Marec, B., Parent, P., De Parscau, L., Saudubray, J.-M., Rozen, R., Rey, J., Munnich, A., Scriver, C.R., Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. Am. J. Hum. Genet. 51 (1992), 191–196.
199. Markwell, M.K., Portner, A., Schwartz, A.L., Alternative route of infection for viruses: Entry by the asialoglycoprotein receptor of sendai virus mutant lacking its attachment protein. Proc. Natl. Acad. Sci. USA 82 (1985), 978–982.
200. Marvit, J., DiLella, A.G., Brayton, K., Ledley, F.D., Robson, K.J.H., Woo, S.L.C., GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res. 15 (1987), 5613–5628.
201. Matsumoto, H., Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins. Hum. Genet. 80 (1988), 207–218.
202. Matsuo, K., Hommes, F.A., The development of the muscarinic acetylcholine receptor in normal and hyperphenylalaninemic rat cerebrum. Neurochem. Res. 13 (1988), 867–870.
203. McBurnie, M.A., Kronmal, R.A., Williamson, M., Roche, A.F., Physical growth of children treated for phenylketonuria. Ann. Hum. Biol. 18 (1991), 357–368.
204. hph-5: A mouse mutant deficient in phenylalanine hydroxylase. Proc. Natl. Acad. Sci. USA 87 (1990), 1965–1967.
205. Melle, D., Verelst, P., Rey, F., Berthelon, M., Franĉois, B., Munnich, A., Lyonnet, S., Two distinct mutations at a single BamHI site in phenylketonuria. J. Med. Genet. 28 (1991), 38–40.
206. Menozzi, P., Piazza, A., Cavalli-Sforza, L., Synthetic maps of human gene frequencies in Europeans. Science 201 (1978), 786–792.
207. Mercer, J.F.B., Grimes, A., Jennings, I., Cotton, R.G.H., Identification of two molecular-mass forms of phenylalanine hydroxylase that segregate independently in rats. Specific association of each form with certain rat strains. Biochem. J. 219 (1984), 891–898.
208. Michael, S.I., Huang, C., Romer, M.U., Wagner, E., Curiel, D.T., Binding-incompetent adenovirus facilitates molecular conjugate-mediated gene transfer by the receptor-mediated endocytosis pathway. J. Biol. Chem. 268 (1993), 6866–6869.
209. Miller, A.D., Rosman, G.J., Improved retroviral vectors for gene transfer and expression. BioTechniques 7 (1989), 980–990.
210. Mitoma, C., Studies on partially purified phenylalanine hydroxylase. Arch. Biochem. Biophys. 60 (1956), 476–484.
211. Mitoma, C., Auld, R.M., Udenfriend, S., On the nature of enzymatic defect in phenylpyruvic oligophrenia. Proc. Soc. Exp. Biol. Med. 94 (1957), 634–635.
212. Morales, G., Requena, G.M., Jimenez-Ruiz, A., Lopez, M.C., Ugarte, M., Alonso, C., Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA. Gene 93 (1990), 213–219.
213. Mullbacher, A., Bellett, A.J.D., Hla, R.T., The murine cellular immune response to adenovirus type 5. Immunol Cell Biol. 67 (1989), 31–39.
214. Murthy, L.I., Berry, H.K., Phenylalanine hydroxylase activity in liver from humans and subhuman primates: Its probable absence in kidney. Biochem. Med. 12 (1975), 392–397.
215. Nagatsu, T., Ichinose, H., Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals. Comp. Biochem. Physiolc. 98 (1991), 203–210.
216. Neda, H., Wu, C.H., Wu, G.Y., Chemical modification of an ecotropic murine leukemia virus results in redirection of its target cell specificity. J. Biol. Chem. 266 (1991), 14143–14146.
217. Niederweiser, A., Blau, N., Wang, M., Joller, P., Atares, M., Cardesa-Garcia, J., GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine and serotonin deficiencies and muscular hypotonia. Eur. J. Pediatr. 141 (1984), 208–214.
218. Niederweiser, A., Leimbacher, W., Curtius, H.-C.H., Ponzone, A., Rey, F., Leupold, D., Atypical phenylketonuria with ”dihydrobiopterine synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver. Eur. J. Pediatr. 144 (1985), 13–16.
219. Niederweiser, A., Shintaku, H., Hasler, T.H., Curtius, H.-C.H., Lehmann, H., Guardamagna, O., Schmidt, H., Prenatal diagnosis of ”dihydrobiopterine synthetase” deficiency, a variant form of phenylketonuria. Eur. J. Pediatr. 145 (1986), 176–178.
220. Okano, Y., Hase, Y., Lee, D.-H., Takada, G., Shigematsu, Y., Oura, T., Isshiki, G., Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype. J. Inher. Metab. Dis. 17 (1994), 156–159.
221. Okano, Y., Hase, Y., Shintaku, H., Takada, G., Shigematsu, Y., Araki, K., Oura, T., Isshiki, G., Molecular characterization of phenylketonuric mutations by analysis of phenylalanine hydroxylase mRNA from lymphoblasts in Japanese. Hum. Mol. Genet. 3 (1994), 659–660.
222. Okano, Y., Hase, Y., Lee, D.-H., Furuyama, J.-I., Shintaku Oura, T., Isshiki, G., Frequency and distribution of phenylketonuric mutations in Orientals. Hum. Mutat. 1 (1992), 216–220.
223. Okano, Y., Eisensmith, R.C., Dasovich, M., Wang, T., Güttler, F., Woo, S.L.C., A prevalent missense mutation in Northern Europe associated with hyperphenylalaninemia. Eur. J. Pediatr. 150 (1991), 347–352.
224. Okano, Y., Eisensmith, R.C., Guttler, F., Lichter-Konecki, U., Konecki, D., Trefz, F.K., Dasovich, M., Wang, T., Henriksen, K., Lou, H., Woo, S.L.C., Molecular basis of phenotypic heterogeneity in phenylketonuria. N. Engl. J. Med. 324 (1991), 1232–1238.
225. Okano, Y., Wang, T., Eisensmith, R.C., Longhi, R., Giovannini, M., Cerone, R., Romano, C., Woo, S.L.C., Phenylketonuria missense mutations in the Mediterranean. Genomics 9 (1991), 96–103.
226. Okano, Y., Wang, T., Eisensmith, R.C., Guttler, F., Woo, S.L.C., Recurrent mutation in the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 46 (1990), 919–924.
227. Okano, Y., Wang, T., Eisensmith, R.C., Steinmann, B., Gitzelmann, R., Woo, S.L.C., Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am. J. Hum. Genet. 46 (1990), 18–25.
228. Okano, Y., Wang, T., Eisensmith, R.C., Woo, S.L.C., Molecular genetics of PKU among Caucasians. Am. J. Hum. Genet., 45(Suppl.), 1989, A211.
229. Onishi, A., Liotta, L.J., Benkovic, S.J., Cloning and expression of Chromobacterium violaceum phenylalanine hydroxylase in Escherichia coli and comparison of amino acid sequence with mammalian aromatic amino acid hydroxylases. J. Biol. Chem. 266 (1991), 18454–18459.
230. Orkin, S.H., Kazazian, H.H., The mutation and polymorphism of the human β-globin gene and its surrounding DNA. Annu. Rev. Genet. 18 (1984), 131–171.
231. Ozalp, I., Coskun, T., Ceyhan, M., Tokol, S., Oran, O., Erdem, G., Tekinalp, G., Durmus, Z., Tarikahya, Y., Incidence of phenylketonuria and hyperphenylalaninemia in a sample of the newborn population. J. Inher. Metab. Dis. 9:Suppl. 2 (1986), 237–239.
232. PAH Gene Mutation Analysis Consortium, April 1994 (C. R. Scriver, Ed.).
233. Paul, T.D., Brandt, I.K., Elsas, L.J., Jackson, C.E., Nance, C.S., Nance, W.E., Linkage analysis using heterozygote detection in phenylketonuria. Clin. Genet. 16 (1979), 217–232.
234. Paul, T.D., Greco, J. Jr., Brandt, T.K., Jackson, C.E., Nance, W.E., Is there a heterozygote advantage in the birthweight and number of children born to PKU heterozygotes?. Am. J. Hum. Genet., 31(Suppl.), 1979, A104.
235. Peng, H., Armentano, D., MacKenzie-Graham, L., Shen, R.-F., Darlington, G., Ledley, F.D., Woo, S.L.C., Retroviral-mediated gene transfer and expression of human phenylalanine hydroxylase in primary mouse hepatocytes. Proc. Natl. Acad. Sci. USA 85 (1988), 8146–8150.
236. Penrose, L.S., Inheritance of phenylpyruvic amentia (phenylketonuria). Lancet 2 (1935), 192–194.
237. Penrose, L.S., Quastel, J.H., Metabolic studies in phenylketonuria. Biochem. J. 31 (1937), 266–274.
238. Pérez, B., Desviat, L.R., Die, M., Cornejo, V., Chamoles, N.A., Nicolini, H., Ugarte, M., Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum. Mol. Genet. 2 (1993), 1289–1290.
239. Pérez, B., Desviat, L.R., Die, M., Ugarte, M., Mutation analysis of phenylketonuria in Spain: Prevalence of two Mediterranean mutations. Hum. Genet. 89 (1992), 341–342.
240. Pigeon, D., Ferrara, P., Gros, F., Thibault, J., Rat pheochromocytoma tyrosine hydroxylase is phosphorylated on serine 40 by an associated protein kinase. J. Biol. Chem. 262 (1987), 6155–6158.
241. Plank, C., Zatloukal, K., Cotten, M., Mechtler, K., Wagner, E., Gene transfer into hepatocytes using asialoglycoprotein receptor mediated endocytosis of DNA complexes with an artificial tetra-antennary galactose ligand. Bioconjugate Chem. 3 (1992), 533–539.
242. Ponder, K., Gupta, S., Leland, F., Darlington, G., Finegold, M., DeMayo, J., Ledley, F., Chowdhury, J., Woo, S.L.C., Mouse hepatocytes migrate to liver parenchyma and function indefinitely after intrasplenic transplantation. Proc. Natl. Acad. Sci. USA 88 (1991), 1217–1221.
243. Quantin, B., Perricaudet, L.D., Tajbakhsh, S., Mandel, J.-L., Adenovirus as an expression vector in muscle cells. In vivo. Proc. Natl. Acad. Sci. USA 89 (1992), 2581–2584.
244. Ramus, S.J., Cotton, R.G.H., A new phenylketonuria (PKU) mutation detected by illegitimate transcription results in RNA mis-splicing: Founder effect and PKU in Australia. Am. J. Hum. Genet., 53, 1993, A1218.
245. Ramus, S.J., Forrest, S.M., Saleeba, J.A., Cotton, R.G.H., CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene. Hum. Genet. 90 (1992), 147–148.
246. Ramus, S.J., Forrest, S.M., Pitt, D.B., Saleeba, J.A., Cotton, R.G.H., Comparison of genotype and intellectual phenotype in untreated PKU patients. J. Med. Genet. 30 (1993), 401–405.
247. Riess, O., Michael, A., Speer, A., Meiske, W., Cobet, G., Coutelle, C., Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic. Hum. Genet. 78 (1988), 343–346.
248. Rey, F., Berthelon, M., Caillaud, C., Lyonnet, S., Abadie, V., Blandin-Savoja, F., Feingold, J., Saudubray, J.M., Frézal, J., Munnich, A., Rey, J., Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am. J. Hum. Genet. 43 (1988), 914–921.
249. Robson, K.J.H., Beattie, W., James, R.J., Cotton, R.C.H., Morgan, F.J., Woo, S.L.C., Sequence comparison of rat liver phenylalanine hydroxylase and its cDNA clones. Biochemistry 23 (1984), 5671–5673.
250. Robson, K.J.H., Chandra, T., MacGillivray, R.T.A., Woo, S.L.C., Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. Proc. Natl. Acad. Sci. USA 79 (1982), 4701–4705.
251. Rosenblatt, D., Scriver, C.R., Heterogeneity in genetic control of phenylalanine metabolism in man. Nature 218 (1968), 677–679.
252. Rosenfeld, M.A., Siegried, W., Yoshimura, K., Yoneyama, K., Fukayama, M., Stier, L.E., Paako, P., Gilardi, P., Stratford-Perricaudet, L.D., Perricaudet, M., Pavirani, A., Lecocq, J.-P., Crystal, R.G., Adenovirus-mediated transfer of a recombinant alpha-1-antitrypsin gene to the lung epithelium. In vivo. Science 252 (1991), 431–434.
253. Rosenfeld, M.A., Yoshimura, K., Trapnell, B.C., Yoneyama, K., Rosenthal, E.R., Dalemans, W., Fukayama, M., Bargon, J., Stratford-Stier, L., Perricaudet, L., Perricaudet, M., Guggino, W.B., Pavirani, A., Lecocq, J.-P., Crystal, R.G., In vivo transfer of the human CFTR gene to the airway epithelium. Cell 68 (1992), 143–155.
254. Sarkar, G., Sommer, S., Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. Science 244 (1989), 331–334.
255. Saugstad, L.F., Increased ”reproductive casualty” in heterozygotes for phenylketonuria. Clin. Genet. 4 (1973), 105–114.
256. Saugstad, L.F., Heterozygote advantage for the phenylketonuria allele. J. Med. Genet. 14 (1977), 20–24.
257. Scriver, C.R., Kaufman, S., Woo, S.L.C., Mendelian hyperphenylalaninemia. Annu. Rev. Genet. 22 (1988), 301–321.
258. Scriver, C.R., Kaufman, S., Woo, S.L.C., The hyperphenylalaninemias. Scriver, C.R., Beaudet, A., Sly, W., Valle, D., (eds.) The Metabolic Basis of Inherited Disease, 7th Edition, 1989, McGraw-Hill, New York, 495–546.
259. Scriver, C.R., John, S.W.M., Rozen, R., Eisensmith, R., Woo, S.L.C., Associations between populations, PKU mutations and RFLP haplotypes at the PAH locus: An overview. Dev. Brain Dys. 6 (1993), 11–25.
260. Shedlovsky, A., McDonald, J.D., Symula, D., Dove, W.F., Mouse models of human phenylketonuria. Genetics 134 (1993), 1205–1210.
261. Shiman, R., Gray, D.W., Substrate activation of phenylalanine hydroxylase. A kinetic characterization. J. Biol. Chem. 255 (1980), 4793–4800.
262. Shirahase, W., Oya, N., Shimada, M., A new single base substitution in a Japanese phenylketonuria (PKU) patient. Brain Dev. 13 (1991), 283–284.
263. Shirahase, W., Shimada, M., Genetic study on Japanese classical phenylketonuria (family analysis by PCR-SSCP analysis). Acta Pediatr. Jpn. 96 (1992), 939–945.
264. Smith, I., Beasley, M.G., Wolff, O.H., Ades, A.E., Behaviour disturbance in 8-year-old children with early-treated phenylketonuria. J. Pediatr. 112 (1988), 403–408.
265. Smith, I., Lobascher, M.E., Stevenson, J.E., Woolf, O.H., Schmidt, H., Grubel-Kaiser, S., Bickel, H., Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. Br. Med. J. 2 (1978), 723–726.
266. Smith, S.C., Kemp, B.E., McAdam, W.J., Mercer, J.E.B., Cotton, R.G., Two apparent molecular weight forms of human and monkey phenylalanine hydroxylase are due to phosphorylation. J. Biol. Chem. 259 (1984), 11284–11289.
267. Sokal, R.R., Oden, N.L., Wilson, C., Genetic evidence for the spread of agriculture in Europe by demic diffusion. Nature 351 (1991), 143–145.
268. Speer, A., Dahl, H.-H., Riess, O., Cobet, G., Hanke, R., Cotton, R.G.H., Coutelle, C., Typing of families with classical phenylketonuria using three alleles of the Hind III linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Clin. Genet. 29 (1986), 491–495.
269. Stoll, J., Goldman, D., Isolation and structural characterization of the murine tryptophan hydroxylase gene. J. Neurosci. Res. 28 (1991), 457–465.
270. Stratford-Perricaudet, L.D., Levrero, M., Chasse, J.-F., Perricaudet, M., Briand, P., Evaluation of the transfer and expression in mice of an enzyme-encoding gene using a human adenovirus vector. Hum. Gene Ther. 1 (1990), 241–256.
271. Stuhrmann, M., Riess, O., Mönch, E., Kurdoglu, G., Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families. Clin. Genet. 36 (1989), 117–121.
272. Sullivan, S.E., Lidsky, A.S., Brayton, K., DiLella, A.G., King, M., Connor, M., Cockburn, F., Woo, S.L.C., Phenylalanine hydroxylase deletion mutant from a patient with classical PKU. Am. J. Hum. Genet., 37(Suppl.), 1985, A177.
273. Sullivan, S.E., Moore, S.D., Connors, M., King, M., Cockburn, F., Steinmann, B., Gitzelmann, R., Daiger, S.P., Chakraborty, R., Woo, S.L.C., Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland. Am. J. Hum. Genet. 44 (1989), 652–659.
274. Svensson, E., Andersson, B., Hagenfeldt, L., Two mutations within the coding sequence of the phenylalanine hydroxylase gene. Hum. Genet. 85 (1990), 300–304.
275. Svensson, E., von Döbeln, U., Hagenfeldt, L., Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families. Hum. Genet. 87 (1991), 11–17.
276. Svensson, E., Eisensmith, R.C., Dworniczak, B., von Döbeln, U., Hagenfeldt, L., Horst, J., Woo, S.L.C., Two missense mutations causing hyperphenylalaninemia associated with DNA haplotype 12. Hum. Mutat. 1 (1992), 129–137.
277. Svensson, E., von Döbeln, U., Eisensmith, R.C., Hagenfeldt, L., Woo, S.L.C., Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur. J. Ped. 152 (1993), 132–139.
278. Svensson, E., Wang, Y., Eisensmith, R., Hagenfeldt, L., Woo, S.L.C., Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene. Eur. J. Hum. Gen. 1 (1993), 306–313.
279. Takahashi, K., Kure, S., Matsubara, Y., Narisawa, K., Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast. Lancet, 340, 1992, 1473.
280. Takahashi, K., Masamune, A., Kure, S., Matsubara, Y., Narisawa, K., Ectopic transcription: An application to the analysis of splicing errors in phenylalanine hydroxylase mRNA. Acta Paediatr., 1994 in press.
281. Takarada, Y., Kalanin, J., Yamashita, K., Ohtsuka, N., Kagawa, S., Matsuoka, A., Phenylketonuria mutant alleles in different populations: Missense mutation in exon 7 of the phenylalanine hydroxylase gene. Clin. Chem. 39 (1993), 2354–2355.
282. Takarada, Y., Yamashita, K., Ohtsuka, N., Kagawa, S., Matsuoka, A., Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria. Clin. Chem., 39, 1993, 1350.
283. Takarada, Y., Yamashita, K., Ohtsuka, N., Kagawa, S., Matsuoka, A., Novel mutation in exon 7 of the phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria. Clin. Chem., 39, 1993, 2357.
284. Thompson, A.J., Smith, I., Kendall, B.E., Youl, B.D., Brenton, D., Magnetic resonance imaging changes in early treated patients with phenylketonuria. Lancet, 337, 1991, 1224.
285. Treacy, E., Byck, S., Clow, C., Scriver, C.R., ”Celtic” phenylketonuria chromosomes found? Evidence in two regions of Quebec province. Eur. J. Hum. Genet. 22 (1993), 220–228.
286. Trefz, F.K., Bartholomè, K., Bickel, H., Lutz, P., Schmidt, H., Seyberth, H.W., In vitro residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J. Inher. Metab. Dis. 4 (1981), 101–102.
287. Trefz, F.K., Burgard, P., König, T., Goebel-Schreiner, B., Lichter-Konecki, U., Konecki, D.S., Schmidt, E., Schmidt, H., Bickel, H., Genotype-phenotype correlations in phenylketonuria. Clin. Chim. Acta 217 (1993), 15–21.
288. Trefz, F.K., Erlenmaier, T., Hunneman, D.H., Bartholomè, K., Lutz, P., Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero L-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography. Clin. Chim. Acta 99 (1979), 211–230.
289. Trefz, F.K., Lichter-Konecki, U., Konecki, D.S., Schlotter, M., Bickel, H., PKU and non-PKU hyperphenylalaninemia: Differentiation, indication for therapy and therapeutic results. Acta Paediatr. Jpn. 30 (1988), 397–404.
290. Trefz, F.K., Yoshino, M., Nishiyori, A., Aengeneyndt, F., Schmidt-Mader, B., Lichter-Konecki, U., Konecki, D.S., RFLP-patterns in Japanese PKU families: New polymorphisms for the mutant phenylalanine hydroxylase gene. Hum. Genet. 85 (1990), 121–122.
291. Tsai, T.-F., Hsiao, K.-J., Su, T.-S., Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians. Hum. Genet. 84 (1990), 409–411.
292. Turek, J.J., Leamon, C.P., Low, P.S., Endocytosis of folate-protein conjugates: Ultrastructural localization in KB cells. J. Cell Sci. 106 (1993), 4223–4230.
293. Tyfield, L.A., Osborn, M.J., Holton, J.B., Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England. J. Med. Genet. 28 (1991), 244–247.
294. Tyfield, L.A., Osborn, M.J., King, S.K., Jones, M.M., Holton, J.B., Molecular basis of phenylketonuria in an English population. Dev. Brain Dys. 6 (1993), 60–67.
295. Udenfriend, S., Cooper, J.R., The enzymatic conversion of phenylalanine to tyrosine. J. Biol. Chem. 194 (1952), 503–511.
296. Verelst, P., Franĉois, B., Cassiman, J.J., Raus, J., Heterogeneity of phenylketonuria in Belgium. Dev. Brain Dys. 6 (1993), 97–108.
297. Verelst, P., Denis, C., Rossius, M., Allaer, D., Franĉois Martial, B.J., Dahl, H., Restriction fragment length polymorphism in the phenylalanine hydroxylase locus in the Belgian population. Abstr. SSIEM, London., 1988.
298. Wagner, E., Cotten, M., Mechtler, K., Kirlappos, H., Birnstiel, M.L., DNA-binding transferrin conjugates as functional gene-delivery agents: Synthesis by linkage of polylysine or ethidium homodimer to the transferrin carbohydrate moiety. Bioconjugate Chem. 2 (1991), 226–231.
299. Wagner, E., Zatloukal, K., Cotten, M., Kirlappos, H., Mechtler, K., Curiel, D.T., Birnstiel, M.L., Coupling of adenovirus to transferrin-polylysine/DNA complexes greatly enhances receptor-mediated gene delivery and expression of transfected genes. Proc. Natl. Acad. Sci. USA 89 (1992), 6099–6103.
300. Wagner, E., Zenke, M., Cotten, M., Beug, H., Birnstiel, M.L., Transferrin-polycation conjugates as carriers for DNA uptake into cells. Proc. Natl. Acad. Sci. USA 87 (1990), 3410–3414.
301. Wang, T., Okano, Y., Eisensmith, R.C., Huang, S.-Z., Zeng, Y.-T., Lo, W.H.Y., Woo, S.L.C., Molecular genetics of PKU in Orientals: Linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 45 (1989), 675–680.
302. Wang, T., Okano, Y., Eisensmith, R.C., Fekete, G., Schuler, D., Berencsi, G., Nasz, I., Woo, S.L.C., Molecular genetics of PKU in Eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. Somat. Cell. Mol. Genet. 16 (1990), 85–89.
303. Wang, T., Okano, Y., Eisensmith, R.C., Harvey, M.L., Lo, W.H.Y., Yuan, L.-F., Huang, S.-Z., Furuyama, J.I., Oura, T., Sommer, S.S., Woo, S.L.C., Founder effect of a prevalent PKU mutation in the Oriental population. Proc. Natl. Acad. Sci. USA 88 (1991), 2146–2150.
304. Wang, T., Okano, Y., Eisensmith, R.C., Lo, W.H.Y., Huang, S.-Z., Zeng, Y.-T., Liu, S.-R., Woo, S.L.C., Missense mutations prevalent in Orientals with phenylketonuria: Molecular characterization and clinical implications. Genomics 10 (1991), 449–456.
305. Wang, T., Okano, Y., Eisensmith, R.C., Lo, W.H.Y., Huang, S.-Z., Zeng, Y.-T., Woo, S.L.C., Identification of a novel PKU mutation in Chinese: Further evidence for multiple origins of PKU in Asia. Am. J. Hum. Genet. 48 (1991), 628–630.
306. Wang, Y., Okano, Y., Eisensmith, R.C., Lo, W.H.Y., Huang, S.-Z., Zeng, Y.-T., Yuan, L.-F., Liu, S.-R., Woo, S.L.C., Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus. Genomics 10 (1992), 449–456.
307. Wedemeyer, N., Dworniczak, B., Horst, J., PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res., 19, 1991, 1959.
308. Weinstein, M., Eisensmith, R.C., Abadie, V., Avigad, S., Lyonnet, S., Schwartz, G., Munnich, A., Woo, S.L.C., Shiloh, Y., A missense mutation, S349P, completely inactivates phenylalanine hydroxylase and is involved in different hyperphenylalaninemias in North African Jews. Hum. Genet. 90 (1993), 645–649.
309. Wilson, J.M., Grossman, M., Wu, C.H., Chowdhury, N.R., Wu, G.Y., Chowdhury, J.R., Hepatocyte-directed gene transfer in vivo leads to transient improvement in hypercholesterolemia in low density lipoprotein receptor-deficient rabbits. J. Biol. Chem. 267 (1992), 963–967.
310. Woo, S.L.C., Lidsky, A.S., Güttler, F., Chandra, T., Robson, K.J.H., Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306 (1983), 151–155.
311. Woolf, L.I., Late onset phenylalanine intoxication. J. Inher. Metab. Dis. 2 (1979), 19–20.
312. Woolf, L.I., The heterozygote advantage of phenylketonuria. Am. J. Hum. Genet. 38 (1986), 773–774.
313. Woolf, L.I., Vulliamy, D.G., Phenylketonuria with a study of the effect upon it of glutamic acid. Arch. Dis. Child. 26 (1951), 487–494.
314. Woolf, L.I., Griffiths, R., Moncrieff, A., Treatment of phenylketonuria with a diet low in phenylalanine. Br. Med. J. 1 (1955), 57–64.
315. Woolf, L.I., McBea, M.S., Woolf, F.M., Calahane, S.F., Phenylketonuria as a balanced polymorphism: The nature of the heterozygote advantage. Ann. Hum. Genet. 38 (1975), 461–469.
316. Wu, G.Y., Wu, C.H., Receptor-mediated in vitro gene transformation by a soluble DNA carrier system. J. Biol. Chem. 262 (1987), 4429–4432.
317. Wu, G.Y., Wu, C.H., Receptor-mediated gene delivery and expression in. Vivo. J. Biol. Chem. 263 (1988), 14621–14624.
318. Wu, G.Y., Wilson, J.M., Shalaby, F., Grossman, M., Shafritz, D.A., Wu, C.H., Receptor-mediated gene delivery. In vivo. J. Biol. Chem. 266 (1991), 14338–14342.
319. Wu, C.H., Wilson, J.M., Wu, G.Y., Targeting genes: Delivery and persistent expression of a foreign gene driven by mammalian regulatory elements. In vivo. J. Biol. Chem. 264 (1989), 16985–16987.
320. Yamashita, M., Minato, S., Arai, M., Kishida, Y., Nagatsu, T., Umezawa, H., Purification of phenylalanine hydroxylase from human adult and foetal livers with a monoclonal antibody. Biochem. Biophys. Res. Commun. 133 (1985), 202–207.
321. Yang, Y., Nunes, F.A., Berencsi, K., Furth, E.E., Gönczöl, E., Wilson, J.M., Cellular immunity to viral antigens limits E1-deleted adenovirus for gene therapy. Proc. Natl. Acad. Sci. USA 91 (1994), 4407–4411.
322. Yang, Y., Raper, S.E., Cohn, J.A., Engelhardt, J.F., Wilson, J.M., An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. Proc. Natl. Acad. Sci. USA 90 (1993), 4601–4605.
323. Zenke, M., Steinlein, P., Wagner, E., Cotten, M., Beug, H., Birnstiel, M.L., Receptor-mediated endocytosis of transferrin-polycation conjugates: An efficient way to introduce DNA into hematopoietic cells. Proc. Natl. Acad. Sci. USA 87 (1990), 3655–3659.
324. Zhao, T.M., Lee, T.D., Gm and Km allotypes in 74 Chinese populations: A hypothesis for the origin of the Chinese nation. Hum. Genet. 83 (1989), 101–110.
325. Zygulska, M., Eigel, A., Aulehla-Scholz, C., Pietrzyk, J.J., Horst, J., Molecular analysis of PKU haplotypes in the population of southern Poland. Hum. Genet. 86 (1991), 292–294.