메뉴 건너뛰기




Volumn , Issue , 2006, Pages 221-232

Hyperphenylalaninaemia

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84895318434     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_17     Document Type: Chapter
Times cited : (20)

References (49)
  • 1
    • 0028702904 scopus 로고
    • The discovery of phenylketonuria
    • Folling I (1994) The discovery of phenylketonuria. Acta Paediatr Suppl 407:4-10
    • (1994) Acta Paediatr Suppl , vol.407 , pp. 4-10
    • Folling, I.1
  • 2
    • 0028567120 scopus 로고
    • Maternal Phenylketonuria Collaborative Study: a status report
    • The Maternal Phenylketonuria Collaborative Study: a status report (1994) Nutr Rev 52:390-393
    • (1994) Nutr Rev , vol.52 , pp. 390-393
  • 3
    • 0023926724 scopus 로고
    • Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early
    • Pietz J, Benninger C, Schmidt H et al (1988) Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early. Eur J Pediatr 147:361-367
    • (1988) Eur J Pediatr , vol.147 , pp. 361-367
    • Pietz, J.1    Benninger, C.2    Schmidt, H.3
  • 4
    • 0033830959 scopus 로고    scopus 로고
    • Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria
    • Kreis R (2000) Comments on in vivo proton magnetic resonance spectroscopy in phenylketonuria. Eur J Pediatr 159 [Suppl 2]: S126-S128
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Kreis, R.1
  • 5
    • 0032231461 scopus 로고    scopus 로고
    • A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 mutations and a general system for genotype-based pre diction of metabolic phenotype
    • Guldberg P, Rey F, Zschocke J et al (1998) A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 mutations and a general system for genotype-based pre diction of metabolic phenotype. Am J Hum Genet 63:71-79
    • (1998) Am J Hum Genet , vol.63 , pp. 71-79
    • Guldberg, P.1    Rey, F.2    Zschocke, J.3
  • 6
    • 0028029176 scopus 로고
    • Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalani naemic disorders. German Collaborative Study of PKU
    • Lichter Konecki U, Rupp A, Konecki DS et al (1994) Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalani naemic disorders. German Collaborative Study of PKU. J Inherit Metab Dis 17:362-365
    • (1994) J Inherit Metab Dis , vol.17 , pp. 362-365
    • Konecki, U.L.1    Rupp, A.2    Konecki, D.S.3
  • 7
    • 0016707505 scopus 로고
    • Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia
    • Bartholome K, Lutz P, Bickel H (1975) Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediatr Res 9:899-903
    • (1975) Pediatr Res , vol.9 , pp. 899-903
    • Bartholome, K.1    Lutz, P.2    Bickel, H.3
  • 8
    • 0019860520 scopus 로고
    • In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants
    • Trefz FK, Bartholome K, Bickel H et al (1981) In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J Inherit Metab Dis 4:101-102
    • (1981) J Inherit Metab Dis , vol.4 , pp. 101-102
    • Trefz, F.K.1    Bartholome, K.2    Bickel, H.3
  • 9
    • 0000134296 scopus 로고    scopus 로고
    • Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
    • Scriver CR, Beaudet AL, Sly WS, Valle D eds, McGraw-Hill, New York
    • Scriver CR, Kaufman S (2001) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1667-1724
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1667-1724
    • Scriver, C.R.1    Kaufman, S.2
  • 10
    • 0027533685 scopus 로고
    • Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria
    • Anonymous
    • Anonymous (1993) Recommendations on the dietary management of phenylketonuria. Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child 68:426-427
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 11
    • 0033003339 scopus 로고    scopus 로고
    • Rationale for the German recommendations for phenylalanine level control in phenylketonuria
    • Burgard P, Bremer HJ, Buhrdel P et al (1999) Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr 158:46-54
    • (1997) Eur J Pediatr , vol.158 , pp. 46-54
    • Burgard, P.1    Bremer, H.J.2    Buhrdel, P.3
  • 12
    • 0034790129 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference Statement: Phenylketonuria: Screening and management, October 16-18, 2000
    • National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000 (2001) Pediatrics 108:972-982
    • (2001) Pediatrics , vol.108 , pp. 972-982
  • 13
  • 14
    • 0033514997 scopus 로고    scopus 로고
    • A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase
    • Sarkissian CN, Shao Z, Blain F et al (1999) A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A 96:2339-2344
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 2339-2344
    • Sarkissian, C.N.1    Shao, Z.2    Blain, F.3
  • 16
    • 0037941238 scopus 로고    scopus 로고
    • Large neutral amino acid therapy and phenylketonuria: A promising approach to treatment
    • Koch R, Moseley KD, Yano S et al (2003) Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol Genet Metab 79:110-113
    • (2003) Mol Genet Metab , vol.79 , pp. 110-113
    • Koch, R.1    Moseley, K.D.2    Yano, S.3
  • 17
    • 0344394559 scopus 로고    scopus 로고
    • Future role of large neutral amino acids in transport of phenylalanine into the brain
    • Matalon R, Surendran S, Matalon KM et al (2003) Future role of large neutral amino acids in transport of phenylalanine into the brain. Pediatrics 112(6 Pt 2):1570-1574
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1570-1574
    • Matalon, R.1    Surendran, S.2    Matalon, K.M.3
  • 18
    • 0037180758 scopus 로고    scopus 로고
    • Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
    • Muntau AC, Roschinger W, Habich M et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347:2122-2132
    • (2002) N Engl J Med , vol.347 , pp. 2122-2132
    • Muntau, A.C.1    Roschinger, W.2    Habich, M.3
  • 19
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82:101-111
    • (2004) Mol Genet Metab , vol.82 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 20
    • 31344482675 scopus 로고    scopus 로고
    • Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria
    • Burgard P, Schmidt E, Rupp A et al (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155 [Suppl 1]: S33-S38
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL. 1
    • Burgard, P.1    Schmidt, E.2    Rupp, A.3
  • 21
    • 0037031064 scopus 로고    scopus 로고
    • How practical are recommendations for dietary control in phenylketonuria?
    • Walter JH, White FJ, Hall SK et al (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55-57
    • (2002) Lancet , vol.360 , pp. 55-57
    • Walter, J.H.1    White, F.J.2    Hall, S.K.3
  • 22
    • 3242662769 scopus 로고    scopus 로고
    • Optimal management of phenylketonuria: A centralized expert team is more successful than a decentralized model of care
    • Camfield CS, Joseph M, Hurley T et al (2004) Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J Pediatr 145:53-57
    • (2004) J Pediatr , vol.145 , pp. 53-57
    • Camfield, C.S.1    Joseph, M.2    Hurley, T.3
  • 23
    • 0025346883 scopus 로고
    • Intelligence and quality of dietary treatment in phenylketonuria
    • Smith I, Beasley MG, Ades AE (1990) Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65:472-478
    • (1990) Arch Dis Child , vol.65 , pp. 472-478
    • Smith, I.1    Beasley, M.G.2    Ades, A.E.3
  • 24
    • 0026087542 scopus 로고
    • Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria
    • Smith I, Beasley MG, Ades AE (1991) Effect on intelligence of relaxing the low phenylalanine diet in phenylketonuria. Arch Dis Child 66:311-316
    • (1991) Arch Dis Child , vol.66 , pp. 311-316
    • Smith, I.1    Beasley, M.G.2    Ades, A.E.3
  • 25
    • 0033835385 scopus 로고    scopus 로고
    • Phenylketonuria: Evidence-based clinical practice. Summary of the roundtable discussion
    • Burgard P, Link R, Schweitzer-Krantz S (2000) Phenylketonuria: evidence-based clinical practice. Summary of the roundtable discussion. Eur J Pediatr 159 [Suppl 2]: S163-S168
    • (2000) Eur J Pediatr , vol.159 , Issue.SUPPL. 2
    • Burgard, P.1    Link, R.2    Schweitzer-Krantz, S.3
  • 26
    • 0034793609 scopus 로고    scopus 로고
    • Adjustment and intelligence among children with phenylketonuria in Sweden
    • Lundstedt G, Johansson A, Melin L et al (2001) Adjustment and intelligence among children with phenylketonuria in Sweden. Acta Paediatr 90:1147-1152
    • (2001) Acta Paediatr , vol.90 , pp. 1147-1152
    • Lundstedt, G.1    Johansson, A.2    Melin, L.3
  • 27
    • 0003222995 scopus 로고    scopus 로고
    • Phenylketonuria
    • Yeates KO, Ris MD, Taylor HG eds, Guildford Press, New York
    • Welsh M, Pennington B (2000) Phenylketonuria. In: Yeates KO, Ris MD, Taylor HG (eds) Pediatric neuropsychology. Guildford Press, New York, pp 275-299
    • (2000) Pediatric Neuropsychology , pp. 275-299
    • Welsh, M.1    Pennington, B.2
  • 28
    • 0029095727 scopus 로고
    • Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change
    • Cleary MA, Walter JH, Wraith JE et al (1995) Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 127:251-255
    • (1995) J Pediatr , vol.127 , pp. 251-255
    • Cleary, M.A.1    Walter, J.H.2    Wraith, J.E.3
  • 29
    • 0036106789 scopus 로고    scopus 로고
    • Phenylketonuria: No specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics
    • Feldmann R, Denecke J, Pietsch M et al (2002) Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr Res 51:761-765
    • (2002) Pediatr Res , vol.51 , pp. 761-765
    • Feldmann, R.1    Denecke, J.2    Pietsch, M.3
  • 30
    • 0025030122 scopus 로고
    • Neurological deterioration in young adults with phenylketonuria
    • Thompson AJ, Smith I, 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.2    Brenton, D.3
  • 31
    • 0345355165 scopus 로고    scopus 로고
    • Spastic paraparesis after anaesthesia
    • Lee P, Smith I, Piesowicz A et al (1999) Spastic paraparesis after anaesthesia. Lancet 353:554
    • (1999) Lancet , vol.353 , pp. 554
    • Lee, P.1    Smith, I.2    Piesowicz, A.3
  • 32
    • 0033929488 scopus 로고    scopus 로고
    • Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet
    • Robinson M, White FJ, Cleary MA et al (2000) Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 136:545-547
    • (2000) J Pediatr , vol.136 , pp. 545-547
    • Robinson, M.1    White, F.J.2    Cleary, M.A.3
  • 33
    • 84895237593 scopus 로고
    • The relation of biochemical abnormality to the development of mental defect in phenylketonuria
    • Discussion of Armstrong MD
    • Discussion of Armstrong MD (1957) The relation of biochemical abnormality to the development of mental defect in phenylketonuria. Columbus Ohio: Ross Laboratories
    • (1957) Columbus Ohio: Ross Laboratories
  • 34
    • 0019156116 scopus 로고
    • Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of the outcome of of untreated and treated pregnancies
    • Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninaemia. An international survey of the outcome of of untreated and treated pregnancies. N Engl J Med 303:1202-1208
    • (1980) N Engl J Med , vol.303 , pp. 1202-1208
    • Lenke, R.R.1    Levy, H.L.2
  • 35
    • 0346124136 scopus 로고    scopus 로고
    • The Maternal Phenylketonuria International Study: 1984-2002
    • Koch R, Hanley W, Levy H et al (2003) The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics 112(6 Pt 2):1523-1529
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1523-1529
    • Koch, R.1    Hanley, W.2    Levy, H.3
  • 36
    • 13244292426 scopus 로고    scopus 로고
    • Maternal phenylketonuria: Report from the United Kingdom Registry 1978-97
    • Lee PJ, Ridout D, Walter JH et al (2005) Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch Dis Child 90:143-146
    • (2005) Arch Dis Child , vol.90 , pp. 143-146
    • Lee, P.J.1    Ridout, D.2    Walter, J.H.3
  • 37
    • 0027397393 scopus 로고
    • Phenylketonuria due to phenylalanine hydroxylase deficiency: An unfolding story
    • Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria (1993) BMJ 306:115-119
    • (1993) Medical Research Council Working Party on Phenylketonuria , vol.306 , pp. 115-119
  • 38
    • 0021967690 scopus 로고
    • The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations
    • Soltesz G, Harris D, Mackenzie IZ et al (1985) The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations. Pediatr Res 19:91-93
    • (1985) Pediatr Res , vol.19 , pp. 91-93
    • Soltesz, G.1    Harris, D.2    Mackenzie, I.Z.3
  • 39
    • 0348014909 scopus 로고    scopus 로고
    • Maternal phenylketonuria: Experiences from the United Kingdom
    • Lee PJ, Lilburn M, Baudin J (2003) Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics 112(6 Pt 2):1553-1556
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1553-1556
    • Lee, P.J.1    Lilburn, M.2    Baudin, J.3
  • 40
    • 0035259571 scopus 로고    scopus 로고
    • American Academy of Pediatrics: Maternal phenylketonuria
    • American Academy of Pediatrics: Maternal phenylketonuria (2001) Pediatrics 107:427-428
    • (2001) Pediatrics , vol.107 , pp. 427-428
  • 41
    • 0033814522 scopus 로고    scopus 로고
    • Maternal phenylketonuria: An international study
    • Koch R, Hanley W, Levy H et al (2000) Maternal phenylketonuria: an international study. Mol Genet Metab 71:233-239
    • (2000) Mol Genet Metab , vol.71 , pp. 233-239
    • Koch, R.1    Hanley, W.2    Levy, H.3
  • 42
    • 0348014935 scopus 로고    scopus 로고
    • Pregnancy experiences in the woman with mild hyperphenylalaninemia
    • Levy HL, Waisbren SE, Guttler F et al (2003) Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics 112(6 Pt 2):1548-1552
    • (2003) Pediatrics , vol.112 , Issue.6 PART 2 , pp. 1548-1552
    • Levy, H.L.1    Waisbren, S.E.2    Guttler, F.3
  • 43
    • 0027219375 scopus 로고
    • Differential diagnosis of hyperphenylalaninaemia by a combined phenylalaninetetrahydrobiopterin loading test
    • Ponzone A, Guardamagna O, Spada M et al (1993) Differential diagnosis of hyperphenylalaninaemia by a combined phenylalaninetetrahydrobiopterin loading test. Eur J Pediatr 152:655-661
    • (1993) Eur J Pediatr , vol.152 , pp. 655-661
    • Ponzone, A.1    Guardamagna, O.2    Spada, M.3
  • 44
    • 0027156904 scopus 로고
    • Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population
    • Hyland K, Surtees RA, Heales SJ et al (1993) Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr Res 34:10-14
    • (1993) Pediatr Res , vol.34 , pp. 10-14
    • Hyland, K.1    Surtees, R.A.2    Heales, S.J.3
  • 45
    • 0021800607 scopus 로고
    • Clinical role of pteridine therapy in tetrahydrobiopterin deficiency
    • Smith I, Hyland K, Kendall B (1985) Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. J Inherit Metab Dis 8 [Suppl 1]: 39-45
    • (1985) J Inherit Metab Dis , vol.8 , Issue.SUPPL. 1 , pp. 39-45
    • Smith, I.1    Hyland, K.2    Kendall, B.3
  • 46
    • 0027313456 scopus 로고
    • Abnormalities of biogenic amine metabolism
    • Hyland K (1993) Abnormalities of biogenic amine metabolism. J Inherit Metab Dis 16:676-690
    • (1993) J Inherit Metab Dis , vol.16 , pp. 676-690
    • Hyland, K.1
  • 47
    • 0029879439 scopus 로고    scopus 로고
    • Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin
    • Spada M, Ferraris S, Ferrero GB et al (1996) Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. J Inherit Metab Dis 19:231-233
    • (1996) J Inherit Metab Dis , vol.19 , pp. 231-233
    • Spada, M.1    Ferraris, S.2    Ferrero, G.B.3
  • 48
    • 0343294342 scopus 로고    scopus 로고
    • Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies
    • Schuler A, Kalmanchey R, Barsi P et al (2000) Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 23:329-332
    • (2000) J Inherit Metab Dis , vol.23 , pp. 329-332
    • Schuler, A.1    Kalmanchey, R.2    Barsi, P.3
  • 49
    • 1242292437 scopus 로고    scopus 로고
    • Dihydropteridine reductase deficiency in man: From biology to treatment
    • Ponzone A, Spada M, Ferraris S et al (2004) Dihydropteridine reductase deficiency in man: from biology to treatment. Med Res Rev 24:127-150
    • (2004) Med Res Rev , vol.24 , pp. 127-150
    • Ponzone, A.1    Spada, M.2    Ferraris, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.