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Volumn 5, Issue 2, 1999, Pages 101-103

Historical aspects and overview of research on phenylketonuria

Author keywords

Newborn screening; Phenylalanine; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

EID: 0033008781     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2779(1999)5:2<101::AID-MRDD1>3.0.CO;2-D     Document Type: Review
Times cited : (9)

References (29)
  • 1
    • 0026069139 scopus 로고
    • Intellectual development in 12-year-old children treated for phenylketonuria
    • Azen C, Koch R, Friedman EG, et al. 1991. Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 145:35-57.
    • (1991) Am J Dis Child , vol.145 , pp. 35-57
    • Azen, C.1    Koch, R.2    Friedman, E.G.3
  • 2
    • 50449135748 scopus 로고
    • Influence of phenylalanine intake on phenylketonurics
    • Bickel H, Gerard J, Hickmans EM. 1953. Influence of phenylalanine intake on phenylketonurics. Lancet 2:812-813.
    • (1953) Lancet , vol.2 , pp. 812-813
    • Bickel, H.1    Gerard, J.2    Hickmans, E.M.3
  • 3
    • 0028298895 scopus 로고
    • Magnetic resonance imaging of the brain in phenylketonuria
    • Cleary M, Wraith JE, Jenkins JPR, et al. 1994. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344:87-90.
    • (1994) Lancet , vol.344 , pp. 87-90
    • Cleary, M.1    Wraith, J.E.2    Jenkins, J.P.R.3
  • 4
    • 0029095727 scopus 로고
    • Magnetic resonance imaging in phenylketonuria and reversal of cerebral white matter change
    • Cleary M, Walters JM, Wraith JR, et al. 1995. Magnetic resonance imaging in phenylketonuria and reversal of cerebral white matter change. J Pediatr 121:251-255.
    • (1995) J Pediatr , vol.121 , pp. 251-255
    • Cleary, M.1    Walters, J.M.2    Wraith, J.R.3
  • 5
    • 0025808668 scopus 로고
    • Different clinical manifestations in three siblings with identical phenylalanine hydroxylase genes
    • DiSylvestre D, Koch R, Groffen J. 1991. Different clinical manifestations in three siblings with identical phenylalanine hydroxylase genes. Am J Hum Genet 48:1014-1016.
    • (1991) Am J Hum Genet , vol.48 , pp. 1014-1016
    • DiSylvestre, D.1    Koch, R.2    Groffen, J.3
  • 6
    • 0014623019 scopus 로고
    • Another population of PKU: Studies on atypical phenylketonurics
    • Dyken P, Culley W. 1969. Another population of PKU: studies on atypical phenylketonurics. Dev Med Child Neurol 11:718-729.
    • (1969) Dev Med Child Neurol , vol.11 , pp. 718-729
    • Dyken, P.1    Culley, W.2
  • 7
    • 0027017991 scopus 로고
    • Molecular basis of phenylketonuria andrelated hyperphenylalaninemias; mutations and polymorphisms in the human phenylalanine hydroxylase gene
    • Eisensmith RC, Woo SLO. 1992. Molecular basis of phenylketonuria andrelated hyperphenylalaninemias; mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutat 1:13-23.
    • (1992) Hum Mutat , vol.1 , pp. 13-23
    • Eisensmith, R.C.1    Woo, S.L.O.2
  • 8
    • 0029128745 scopus 로고
    • Phenylketonuric patients decades after diet
    • Fisch R, Clung P, Weisberg S, et al. 1995. Phenylketonuric patients decades after diet. J Inherit Metab Dis; 18:426-427.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 426-427
    • Fisch, R.1    Clung, P.2    Weisberg, S.3
  • 9
    • 84941432771 scopus 로고
    • Euber ausscheidung von phenylbrueuztraubensaure inden harn als staffweckselanormaloie in verbindung met imbezillitat
    • Fölling A. 1934 Euber Ausscheidung von Phenylbrueuztraubensaure inden harn als Staffweckselanormaloie in Verbindung met Imbezillitat. Z Physiol Chem 2L7:169-176.
    • (1934) Z Physiol Chem , vol.2 L7 , pp. 169-176
    • Fölling, A.1
  • 10
    • 0001600393 scopus 로고
    • Blood screening for phenylketonuria
    • Guthrie R. 1961. Blood screening for phenylketonuria. JAMA 178:863.
    • (1961) JAMA , vol.178 , pp. 863
    • Guthrie, R.1
  • 11
    • 0028706944 scopus 로고    scopus 로고
    • Mutations in the phenylalanine hydroxylase gene: Phenotypic variability of hyperphenylalaninemia
    • Guttler F, Guldberg P. 1996. Mutations in the phenylalanine hydroxylase gene: Phenotypic variability of hyperphenylalaninemia. Acta Paediatr Scand 407:49-56.
    • (1996) Acta Paediatr Scand , vol.407 , pp. 49-56
    • Guttler, F.1    Guldberg, P.2
  • 12
    • 0022609047 scopus 로고
    • Effect of ageat loss of dietary control on intellectual performance and behavior of children with phenylketonuria
    • Holtzman NA, Kronmal RA, van Doorninck W, et al. 1986. Effect of ageat loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N Engl J Med 314:593-598.
    • (1986) N Engl J Med , vol.314 , pp. 593-598
    • Holtzman, N.A.1    Kronmal, R.A.2    Van Doorninck, W.3
  • 13
    • 0344484229 scopus 로고
    • Report of three children taken off diet with no apparent ill effect
    • Horner FH, Streamer CW, Alejandrino LL, et al. 1962. Report of three children taken off diet with no apparent ill effect. N Engl J Med 266:79-81.
    • (1962) N Engl J Med , vol.266 , pp. 79-81
    • Horner, F.H.1    Streamer, C.W.2    Alejandrino, L.L.3
  • 14
    • 0014962227 scopus 로고
    • PKU in the general population
    • Howell RR. 1970. PKU in the general population. N Engl J Med; 282:1486-1488.
    • (1970) N Engl J Med , vol.282 , pp. 1486-1488
    • Howell, R.R.1
  • 15
    • 0013939371 scopus 로고
    • PKU; a study of biochemical genetics
    • Hsia DYY. 1966. PKU; a study of biochemical genetics. Pediatrics 38:173-184.
    • (1966) Pediatrics , vol.38 , pp. 173-184
    • Hsia, D.Y.Y.1
  • 16
    • 0014323719 scopus 로고
    • Atypical PKU with borderline or normal intelligence
    • Hsia DYY, O'Flynn ME, Berman JL. 1968. Atypical PKU with borderline or normal intelligence. Am J Dis Child 116:143-157.
    • (1968) Am J Dis Child , vol.116 , pp. 143-157
    • Hsia, D.Y.Y.1    O'Flynn, M.E.2    Berman, J.L.3
  • 17
    • 0001723792 scopus 로고
    • Studies on phenylpyruvic oligophrenia: Position of metabolic error
    • Jervis GA. 1947. Studies on phenylpyruvic oligophrenia: Position of metabolic error. J Biol Chem 169:651-656.
    • (1947) J Biol Chem , vol.169 , pp. 651-656
    • Jervis, G.A.1
  • 18
    • 0015193355 scopus 로고
    • The phenylalanine hydroxylating system from mammalian liver
    • Kaufman S. 1971. The phenylalanine hydroxylating system from mammalian liver. Adv Enzymol 35:245-248.
    • (1971) Adv Enzymol , vol.35 , pp. 245-248
    • Kaufman, S.1
  • 19
    • 0029806906 scopus 로고    scopus 로고
    • Care of the adult with phenylketonuria
    • Koch R, Azen C, Friedman EG, et al. 1996. Care of the adult with phenylketonuria. Eur J Pediatr 155(Suppl 1):590-592.
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL. 1 , pp. 590-592
    • Koch, R.1    Azen, C.2    Friedman, E.G.3
  • 20
    • 0031127171 scopus 로고    scopus 로고
    • The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency
    • Koch R, Fishier K, Azen C, et al. 1997. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem Mol Med 60:92-101.
    • (1997) Biochem Mol Med , vol.60 , pp. 92-101
    • Koch, R.1    Fishier, K.2    Azen, C.3
  • 21
    • 0027533685 scopus 로고
    • Recommendations on the dietary management of phenylketonuria
    • Medical Research Council Working Party on Phenylketonuria. 1993. Recommendations on the dietary management of phenylketonuria. Arch Dis Child 68:426-427.
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 22
    • 0014503555 scopus 로고
    • Termination of dietary treatment of phenylketonuria
    • Murphy D. 1969. Termination of dietary treatment of phenylketonuria. Ir J Med Sci 8:177-178.
    • (1969) Ir J Med Sci , vol.8 , pp. 177-178
    • Murphy, D.1
  • 23
    • 0029954988 scopus 로고    scopus 로고
    • Phenylketonuria:Findings at MR imaging and localized in vivo H-1 spectroscopy of the brain in patients with early treatment
    • Pietz J, Schmidt H, Meydig-Lamadz UR, et al. 1996. Phenylketonuria:Findings at MR imaging and localized in vivo H-1 spectroscopy of the brain in patients with early treatment. Radiology 201:413-420.
    • (1996) Radiology , vol.201 , pp. 413-420
    • Pietz, J.1    Schmidt, H.2    Meydig-Lamadz, U.R.3
  • 25
    • 0025030122 scopus 로고
    • Neurological deterioration in young adults with phenylketonuria
    • Thompson AJ, Smith IL, Brenton D, et al. 1990. Neurological deterioration in young adults with phenylketonuria. Lancet 336:602-605.
    • (1990) Lancet , vol.336 , pp. 602-605
    • Thompson, A.J.1    Smith, I.L.2    Brenton, D.3
  • 26
    • 0027313697 scopus 로고
    • Genotype-phenotype correlation in phenylketonuria
    • Trefz FK, Brugard P, Konig T, et al. 1993. Genotype-phenotype correlation in phenylketonuria. Clin Chim Acta 217:15-21.
    • (1993) Clin Chim Acta , vol.217 , pp. 15-21
    • Trefz, F.K.1    Brugard, P.2    Konig, T.3
  • 27
    • 0000706954 scopus 로고
    • Phenylalanine convention to tyrosine
    • Udenfriend S, Cooper JR. 1953. Phenylalanine convention to tyrosine. J Biol Chem 194:503-511.
    • (1953) J Biol Chem , vol.194 , pp. 503-511
    • Udenfriend, S.1    Cooper, J.R.2
  • 28
    • 0029031124 scopus 로고
    • Magnetic resonance imaging and proton spectroscopy in PKU
    • Ullrich K, Weglage J, Hahn-Ullrich H, et al. 1995. Magnetic resonance imaging and proton spectroscopy in PKU. Int Pediatr 10:95-99.
    • (1995) Int Pediatr , vol.10 , pp. 95-99
    • Ullrich, K.1    Weglage, J.2    Hahn-Ullrich, H.3
  • 29
    • 0031975526 scopus 로고    scopus 로고
    • In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of inter individual differences in brain phenylalanine concentrations
    • Weglage J, Moller H, Wiederman D, et al. 1998. In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of inter individual differences in brain phenylalanine concentrations. J Inher Metab Dis 21:81-82.
    • (1998) J Inher Metab Dis , vol.21 , pp. 81-82
    • Weglage, J.1    Moller, H.2    Wiederman, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.