메뉴 건너뛰기




Volumn 104, Issue SUPPL., 2011, Pages

Follow up of phenylketonuria patients

Author keywords

Follow up; Management; Outcome; Phenylketonuria

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; CYANOCOBALAMIN; DOPAMINE; MELANIN; NORADRENALIN; PHENYLALANINE; PYRIDOXINE; RETINOL; RIBOFLAVIN; SELENIUM; THYROXINE; TRACE ELEMENT; TYROSINE; UBIDECARENONE; VITAMIN D;

EID: 82755192932     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.005     Document Type: Review
Times cited : (50)

References (115)
  • 3
    • 79952547216 scopus 로고    scopus 로고
    • Nutritional issues in treating phenylketonuria
    • Feillet F., Agostoni C. Nutritional issues in treating phenylketonuria. J. Inherit. Metab. Dis. 2010, 33:659-664.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , pp. 659-664
    • Feillet, F.1    Agostoni, C.2
  • 4
    • 72249087046 scopus 로고
    • Phenylalanine hydroxylase deficiency
    • University of Washington, Seattle, Seattle (WA), [updated 2010 May], R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Mitchell J.J., Scriver C.R. Phenylalanine hydroxylase deficiency. GeneReviews [Internet] 1993, University of Washington, Seattle, Seattle (WA), [updated 2010 May]. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (1993) GeneReviews [Internet]
    • Mitchell, J.J.1    Scriver, C.R.2
  • 5
    • 42549100298 scopus 로고    scopus 로고
    • Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria
    • Simon E., Schwarz M., Roos J., Dragano N., Geraedts M., Siegrist J., Kamp G., Wendel U. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria. Health Qual. Life Outcomes 2008, 6:25.
    • (2008) Health Qual. Life Outcomes , vol.6 , pp. 25
    • Simon, E.1    Schwarz, M.2    Roos, J.3    Dragano, N.4    Geraedts, M.5    Siegrist, J.6    Kamp, G.7    Wendel, U.8
  • 6
    • 72249113588 scopus 로고    scopus 로고
    • ADHD, learning, and academic performance in phenylketonuria
    • Antshel K.M. ADHD, learning, and academic performance in phenylketonuria. Mol. Genet. Metab. 2010, 99:S52-S58.
    • (2010) Mol. Genet. Metab. , vol.99
    • Antshel, K.M.1
  • 7
  • 8
    • 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. Pediatrics 2001, 108:972-982.
    • (2001) Pediatrics , vol.108 , pp. 972-982
  • 10
    • 0027533685 scopus 로고
    • Report of Medical Research Council Working Party on Phenylketonuria: recommendations on the dietary management of phenylketonuria
    • Report of Medical Research Council Working Party on Phenylketonuria: recommendations on the dietary management of phenylketonuria. Arch. Dis. Child. 1993, 68:426-427.
    • (1993) Arch. Dis. Child. , vol.68 , pp. 426-427
  • 12
    • 0033834982 scopus 로고    scopus 로고
    • Survey of national guidelines for the treatment of phenylketonuria
    • Schweitzer-Krantz S., Burgard P. Survey of national guidelines for the treatment of phenylketonuria. Eur. J. Pediatr. 2000, 159:S70-S73.
    • (2000) Eur. J. Pediatr. , vol.159
    • Schweitzer-Krantz, S.1    Burgard, P.2
  • 14
    • 0033830620 scopus 로고    scopus 로고
    • Comments on behaviour in early treated phenylketonuria
    • Weglage J. Comments on behaviour in early treated phenylketonuria. Eur. J. Pediatr. 2000, 159:S94-S95.
    • (2000) Eur. J. Pediatr. , vol.159
    • Weglage, J.1
  • 15
    • 57649215869 scopus 로고    scopus 로고
    • The truth of treating patients with phenylketonuria after childhood. The need for a new guideline
    • van Spronsen F.J., Burgard P. The truth of treating patients with phenylketonuria after childhood. The need for a new guideline. J. Inherit. Metab. Dis. 2008, 31:673-679.
    • (2008) J. Inherit. Metab. Dis. , vol.31 , pp. 673-679
    • van Spronsen, F.J.1    Burgard, P.2
  • 16
    • 36148953590 scopus 로고    scopus 로고
    • Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment
    • Levy H., Burton B., Cederbaum S., Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol. Genet. Metab. 2007, 92:287-291.
    • (2007) Mol. Genet. Metab. , vol.92 , pp. 287-291
    • Levy, H.1    Burton, B.2    Cederbaum, S.3    Scriver, C.4
  • 21
    • 0025346883 scopus 로고
    • Intelligence and quality of dietary treatment in phenylketonuria
    • Smith I., Beasley M.G., Ades A.E. Intelligence and quality of dietary treatment in phenylketonuria. Arch. Dis. Child. 1990, 65:472-478.
    • (1990) Arch. Dis. Child. , vol.65 , pp. 472-478
    • Smith, I.1    Beasley, M.G.2    Ades, A.E.3
  • 22
    • 0031898769 scopus 로고    scopus 로고
    • Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
    • Pardridge W.M. Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids. Neurochem. Res. 1998, 23:635-644.
    • (1998) Neurochem. Res. , vol.23 , pp. 635-644
    • Pardridge, W.M.1
  • 23
    • 0036028026 scopus 로고    scopus 로고
    • Sustained attention and inhibition of cognitive interference in treated phenylketonuria: association with concurrent and lifetime phenylalanine concentrations
    • Huijbregts S.C., de Sonneville L.M., Licht R., van Spronsen F.J., Verkerk P.H., Sergeant J.A. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: association with concurrent and lifetime phenylalanine concentrations. Neuropsychologia 2002, 40:7-15.
    • (2002) Neuropsychologia , vol.40 , pp. 7-15
    • Huijbregts, S.C.1    de Sonneville, L.M.2    Licht, R.3    van Spronsen, F.J.4    Verkerk, P.H.5    Sergeant, J.A.6
  • 24
    • 0030048431 scopus 로고    scopus 로고
    • Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet
    • MacDonald A., Rylance G., Hall S.K., Asplin D., Booth I.W. Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch. Dis. Child. 1996, 74:412-417.
    • (1996) Arch. Dis. Child. , vol.74 , pp. 412-417
    • MacDonald, A.1    Rylance, G.2    Hall, S.K.3    Asplin, D.4    Booth, I.W.5
  • 25
    • 0031953295 scopus 로고    scopus 로고
    • Does a single plasma phenylalanine predict quality of control in phenylketonuria
    • MacDonald A., Rylance G.W., Asplin D., Hall S.K., Booth I.W. Does a single plasma phenylalanine predict quality of control in phenylketonuria. Arch. Dis. Child. 1998, 78:122-126.
    • (1998) Arch. Dis. Child. , vol.78 , pp. 122-126
    • MacDonald, A.1    Rylance, G.W.2    Asplin, D.3    Hall, S.K.4    Booth, I.W.5
  • 26
    • 77957242255 scopus 로고    scopus 로고
    • Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU)
    • Burton B.K., Leviton L. Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU). Mol. Genet. Metab. 2010, 101:146-148.
    • (2010) Mol. Genet. Metab. , vol.101 , pp. 146-148
    • Burton, B.K.1    Leviton, L.2
  • 27
    • 1642452976 scopus 로고    scopus 로고
    • Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
    • Gassió R., Campistol J., Vilaseca M.A., Lambruschini N., Cambra F.J., Fuste E. Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?. Acta Paediatr. 2003, 92:1474-1478.
    • (2003) Acta Paediatr. , vol.92 , pp. 1474-1478
    • Gassió, R.1    Campistol, J.2    Vilaseca, M.A.3    Lambruschini, N.4    Cambra, F.J.5    Fuste, E.6
  • 28
    • 0023627217 scopus 로고    scopus 로고
    • Neuropsychological studies in adolescents with phenylketonuria returned to phenylalanine-restricted diets
    • Clarke J.T.R., Gates R.D., Hogan S.E., Barrett M., MacDonald G.W. Neuropsychological studies in adolescents with phenylketonuria returned to phenylalanine-restricted diets. Am. J. Ment. Retard. 1997, 92:255-262.
    • (1997) Am. J. Ment. Retard. , vol.92 , pp. 255-262
    • Clarke, J.T.R.1    Gates, R.D.2    Hogan, S.E.3    Barrett, M.4    MacDonald, G.W.5
  • 29
    • 4644265213 scopus 로고    scopus 로고
    • Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review
    • Brumm V.L., Azen C., Moats R.A., Stern A.M., Broomand C., Nelson M.D., Koch R. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J. Inherit. Metab. Dis. 2004, 27:549-566.
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 549-566
    • Brumm, V.L.1    Azen, C.2    Moats, R.A.3    Stern, A.M.4    Broomand, C.5    Nelson, M.D.6    Koch, R.7
  • 30
    • 5444265069 scopus 로고    scopus 로고
    • Executive functioning, memory, and learning in phenylketonuria
    • Channon S., German E., Cassina C., Lee P. Executive functioning, memory, and learning in phenylketonuria. Neuropsychology 2004, 18:613-620.
    • (2004) Neuropsychology , vol.18 , pp. 613-620
    • Channon, S.1    German, E.2    Cassina, C.3    Lee, P.4
  • 31
    • 26444434299 scopus 로고    scopus 로고
    • Executive functioning and speed of processing in phenylketonuria
    • Channon S., Mockler C., Lee P. Executive functioning and speed of processing in phenylketonuria. Neuropsychology 2005, 19:679-686.
    • (2005) Neuropsychology , vol.19 , pp. 679-686
    • Channon, S.1    Mockler, C.2    Lee, P.3
  • 32
    • 33947289219 scopus 로고    scopus 로고
    • Effects of dietary management of phenylketonuria on long-term cognitive outcome
    • Channon S., Goodman G., Zlotowitz S., Mockler C., Lee P.J. Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch. Dis. Child. 2007, 92:213-218.
    • (2007) Arch. Dis. Child. , vol.92 , pp. 213-218
    • Channon, S.1    Goodman, G.2    Zlotowitz, S.3    Mockler, C.4    Lee, P.J.5
  • 33
    • 19944394579 scopus 로고    scopus 로고
    • Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults
    • Feldmann R., Denecke J., Grenzebach M., Weglage J. Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults. J. Inherit. Metab. Dis. 2005, 28:445-455.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , pp. 445-455
    • Feldmann, R.1    Denecke, J.2    Grenzebach, M.3    Weglage, J.4
  • 34
    • 0031869897 scopus 로고    scopus 로고
    • Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations
    • Leuzzi V., Rinalduzzi S., Chiarotti F., Garzia P., Trasimeni G., Accornero N. Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations. J. Inherit. Metab. Dis. 1998, 21:351-364.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 351-364
    • Leuzzi, V.1    Rinalduzzi, S.2    Chiarotti, F.3    Garzia, P.4    Trasimeni, G.5    Accornero, N.6
  • 37
    • 0029786709 scopus 로고    scopus 로고
    • Intelligence and professional career in young adults treated early for phenylketonuria
    • Schmidt H. Intelligence and professional career in young adults treated early for phenylketonuria. Eur. J. Pediatr. 1996, 155:S97-S100.
    • (1996) Eur. J. Pediatr. , vol.155
    • Schmidt, H.1
  • 39
    • 0034847228 scopus 로고    scopus 로고
    • Assessment of adult phenylketonuria
    • Cleary M., Walter J.H. Assessment of adult phenylketonuria. Ann. Clin. Biochem. 2001, 38:450-458.
    • (2001) Ann. Clin. Biochem. , vol.38 , pp. 450-458
    • Cleary, M.1    Walter, J.H.2
  • 40
    • 0034829690 scopus 로고    scopus 로고
    • Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria
    • White D.A., Nortz M.J., Mandernach T., Huntington K., Steiner R.D. Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology 2001, 15:221-229.
    • (2001) Neuropsychology , vol.15 , pp. 221-229
    • White, D.A.1    Nortz, M.J.2    Mandernach, T.3    Huntington, K.4    Steiner, R.D.5
  • 44
    • 0037941238 scopus 로고    scopus 로고
    • Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment
    • Koch R., Moseley M.D., Yano S., Nelson M., Moats R.A. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol. Genet. Metab. 2003, 79:110-113.
    • (2003) Mol. Genet. Metab. , vol.79 , pp. 110-113
    • Koch, R.1    Moseley, M.D.2    Yano, S.3    Nelson, M.4    Moats, R.A.5
  • 46
    • 0027430130 scopus 로고
    • Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing
    • van Spronsen F.J., van Rijn M., van Dijk T., Smit G.P., Reijngoud D.J., Berger R., Heymans H.S. Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing. Pediatrics 1993, 92:570-573.
    • (1993) Pediatrics , vol.92 , pp. 570-573
    • van Spronsen, F.J.1    van Rijn, M.2    van Dijk, T.3    Smit, G.P.4    Reijngoud, D.J.5    Berger, R.6    Heymans, H.S.7
  • 47
    • 3142767753 scopus 로고    scopus 로고
    • Blood phenylalanine control in adolescents with phenylketonuria
    • Walter J.H., White F.J. Blood phenylalanine control in adolescents with phenylketonuria. Int. J. Adolesc. Med. Health 2004, 16:41-45.
    • (2004) Int. J. Adolesc. Med. Health , vol.16 , pp. 41-45
    • Walter, J.H.1    White, F.J.2
  • 48
    • 0015606262 scopus 로고
    • A study of plasma free amino acid levels. II. Normal values for children and adults
    • Armstrong M.D., Stave U. A study of plasma free amino acid levels. II. Normal values for children and adults. Metabolism 1973, 22:561-569.
    • (1973) Metabolism , vol.22 , pp. 561-569
    • Armstrong, M.D.1    Stave, U.2
  • 49
  • 50
    • 0003042138 scopus 로고
    • The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child
    • Bickel H., Gerard J., Hickmans E.M. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediatr. 1954, 43:64-77.
    • (1954) Acta Paediatr. , vol.43 , pp. 64-77
    • Bickel, H.1    Gerard, J.2    Hickmans, E.M.3
  • 51
    • 84897924606 scopus 로고    scopus 로고
    • Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey
    • Sharman R., Sullivan K.A., Young R.M., McGill J.J. Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey. J. Inherit. Metab. Dis. Sep. 30 2010.
    • (2010) J. Inherit. Metab. Dis.
    • Sharman, R.1    Sullivan, K.A.2    Young, R.M.3    McGill, J.J.4
  • 52
    • 67749101975 scopus 로고    scopus 로고
    • Tyrosine supplements for ADHD symptoms with comorbid phenylketonuria
    • Posner J., Gorman D., Nagel B.J. Tyrosine supplements for ADHD symptoms with comorbid phenylketonuria. J. Neuropsychiatry Clin. Neurosci. 2009, 21:228-230.
    • (2009) J. Neuropsychiatry Clin. Neurosci. , vol.21 , pp. 228-230
    • Posner, J.1    Gorman, D.2    Nagel, B.J.3
  • 54
    • 77951045995 scopus 로고    scopus 로고
    • A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels
    • Sharman R., Sullivan K., Young R., McGill J. A preliminary investigation of the role of the phenylalanine:tyrosine ratio in children with early and continuously treated phenylketonuria: toward identification of "safe" levels. Dev. Neuropsychol. 2010, 35:57-65.
    • (2010) Dev. Neuropsychol. , vol.35 , pp. 57-65
    • Sharman, R.1    Sullivan, K.2    Young, R.3    McGill, J.4
  • 55
    • 0026056827 scopus 로고
    • Disturbed myelination in patients with treated hyperphenylalaninemias: evaluation with magnetic resonance imaging
    • Bick U., Farhendorf G., Ludolph A.G., Vasallo P., Weglage J., Ullrich K. Disturbed myelination in patients with treated hyperphenylalaninemias: evaluation with magnetic resonance imaging. Eur. J. Pediatr. 1991, 150:185-189.
    • (1991) Eur. J. Pediatr. , vol.150 , pp. 185-189
    • Bick, U.1    Farhendorf, G.2    Ludolph, A.G.3    Vasallo, P.4    Weglage, J.5    Ullrich, K.6
  • 56
    • 0023807989 scopus 로고
    • Evoked potentials and electroencephalography in adolescents with phenylketonuria
    • Korinthenberg R., Ullrich K., Fullenkemper F. Evoked potentials and electroencephalography in adolescents with phenylketonuria. Neuropediatrics 1988, 19:175-178.
    • (1988) Neuropediatrics , vol.19 , pp. 175-178
    • Korinthenberg, R.1    Ullrich, K.2    Fullenkemper, F.3
  • 58
    • 0022730483 scopus 로고
    • Renewed questions about polyunsaturated fatty acid
    • Lands W.E.M. Renewed questions about polyunsaturated fatty acid. Nutr. Rev. 1986, 44:189-195.
    • (1986) Nutr. Rev. , vol.44 , pp. 189-195
    • Lands, W.E.M.1
  • 61
    • 19944391365 scopus 로고    scopus 로고
    • Breastfeeding experience in inborn errors of metabolism other than phenylketonuria
    • Hüner G., Baykal T., Demir F., Demirkol M. Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. J. Inherit. Metab. Dis. 2005, 28:457-465.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , pp. 457-465
    • Hüner, G.1    Baykal, T.2    Demir, F.3    Demirkol, M.4
  • 63
    • 0030057512 scopus 로고    scopus 로고
    • Early breastfeeding is linked to higher intelligence quotient score in dietary treated phenylketonuric children
    • Riva E., Agostoni C., Biasucci G., Trojan S., Luotti D., Fiori L., Giovannini M. Early breastfeeding is linked to higher intelligence quotient score in dietary treated phenylketonuric children. Acta Paediatr. 1996, 85:56-58.
    • (1996) Acta Paediatr. , vol.85 , pp. 56-58
    • Riva, E.1    Agostoni, C.2    Biasucci, G.3    Trojan, S.4    Luotti, D.5    Fiori, L.6    Giovannini, M.7
  • 64
    • 0024326366 scopus 로고
    • Milk protein quantity and quality and protein requirements during development
    • Raiha N.C.R. Milk protein quantity and quality and protein requirements during development. Adv. Pediatr. 1989, 36:347-348.
    • (1989) Adv. Pediatr. , vol.36 , pp. 347-348
    • Raiha, N.C.R.1
  • 65
    • 0344329878 scopus 로고    scopus 로고
    • Health benefits of docosahexaenoic acid (DHA)
    • Horrocks L.A., Yeo Y.K. Health benefits of docosahexaenoic acid (DHA). Pharmacol. Res. 1999, 40:211-225.
    • (1999) Pharmacol. Res. , vol.40 , pp. 211-225
    • Horrocks, L.A.1    Yeo, Y.K.2
  • 68
    • 78650854677 scopus 로고    scopus 로고
    • Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages
    • Vugteveen I., Hoeksma M., Monsen A.L., Fokkema M.R., Reijngoud D.J., van Rijn M., van Spronsen F.J. Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages. Mol. Genet. Metab. 2011, 102:13-17.
    • (2011) Mol. Genet. Metab. , vol.102 , pp. 13-17
    • Vugteveen, I.1    Hoeksma, M.2    Monsen, A.L.3    Fokkema, M.R.4    Reijngoud, D.J.5    van Rijn, M.6    van Spronsen, F.J.7
  • 70
    • 79955682779 scopus 로고    scopus 로고
    • A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria
    • Yi S.H., Kable J.A., Evatt M.L., Singh R.H. A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria. J. Inherit. Metab. Dis. 2011, 34:455-463.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 455-463
    • Yi, S.H.1    Kable, J.A.2    Evatt, M.L.3    Singh, R.H.4
  • 75
    • 0028693776 scopus 로고
    • The phenylalanine response curve in relation to growth and mental development in the first years of life
    • van der Schot L.W., Doesburg W.H., Sengers R.C. The phenylalanine response curve in relation to growth and mental development in the first years of life. Acta Paediatr. 1994, 407:S68-S69.
    • (1994) Acta Paediatr. , vol.407
    • van der Schot, L.W.1    Doesburg, W.H.2    Sengers, R.C.3
  • 76
    • 0028015610 scopus 로고
    • Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria, The National PKU Steering Committee
    • Verkerk P.H., van Spronsen F.J., Smit G.P., Sengers R.C. Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria, The National PKU Steering Committee. Arch. Dis. Child. 1994, 71:114-118.
    • (1994) Arch. Dis. Child. , vol.71 , pp. 114-118
    • Verkerk, P.H.1    van Spronsen, F.J.2    Smit, G.P.3    Sengers, R.C.4
  • 77
    • 0030743678 scopus 로고    scopus 로고
    • Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering Committee
    • van Spronsen F.J., Verkerk P.H., van Houten M. Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering Committee. Acta Paediatr. 1997, 86:816-818.
    • (1997) Acta Paediatr. , vol.86 , pp. 816-818
    • van Spronsen, F.J.1    Verkerk, P.H.2    van Houten, M.3
  • 82
    • 0019288144 scopus 로고
    • Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
    • Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr. Scand. 1980, 280:1-80.
    • (1980) Acta Paediatr. Scand. , vol.280 , pp. 1-80
    • Güttler, F.1
  • 83
    • 69449108405 scopus 로고    scopus 로고
    • In response to F.J. van Spronsen et al., Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
    • Ponzone A., Mussa A., Porta F. In response to F.J. van Spronsen et al., Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. J. Inherit. Metab. Dis. 2009, 32:584-586.
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 584-586
    • Ponzone, A.1    Mussa, A.2    Porta, F.3
  • 84
    • 79960017880 scopus 로고    scopus 로고
    • Bone mineral and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria
    • Published online
    • Adamczyk P., Morawiec-Knysak A., Płudowski P., Banaszak B., Karpe J., Pluskiewicz W. Bone mineral and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. J. Bone Miner. Metab. August 13 2010, Published online. 10.1007/s00774-010-0216-x.
    • (2010) J. Bone Miner. Metab.
    • Adamczyk, P.1    Morawiec-Knysak, A.2    Płudowski, P.3    Banaszak, B.4    Karpe, J.5    Pluskiewicz, W.6
  • 86
    • 0033376348 scopus 로고    scopus 로고
    • Bone mineral density in patients with phenylketonuria
    • Zeman J., Bayer M., Štépán J. Bone mineral density in patients with phenylketonuria. Acta Paediatr. 1999, 88:1348-1351.
    • (1999) Acta Paediatr. , vol.88 , pp. 1348-1351
    • Zeman, J.1    Bayer, M.2    Štépán, J.3
  • 89
    • 0026764376 scopus 로고
    • Related bone mineral status in children with phenylketonuria-relationship to nutritional intake and phenylalanine control
    • McMurry M.P., Chan G.M., Leonard C.O., Ernst S.L. Related bone mineral status in children with phenylketonuria-relationship to nutritional intake and phenylalanine control. Am. J. Clin. Nutr. 1992, 55:997-1004.
    • (1992) Am. J. Clin. Nutr. , vol.55 , pp. 997-1004
    • McMurry, M.P.1    Chan, G.M.2    Leonard, C.O.3    Ernst, S.L.4
  • 90
    • 0036451582 scopus 로고    scopus 로고
    • The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria
    • Barat P., Barthe N., Redonnet-Vernhet I., Parrot F. The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria. Eur. J. Paediatr. 2002, 161:687-688.
    • (2002) Eur. J. Paediatr. , vol.161 , pp. 687-688
    • Barat, P.1    Barthe, N.2    Redonnet-Vernhet, I.3    Parrot, F.4
  • 91
    • 0036745769 scopus 로고    scopus 로고
    • Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mouse
    • Yannicelli S., Medeiros D.M. Elevated plasma phenylalanine concentrations may adversely affect bone status of phenylketonuric mouse. J. Inherit. Metab. Dis. 2002, 25:347-361.
    • (2002) J. Inherit. Metab. Dis. , vol.25 , pp. 347-361
    • Yannicelli, S.1    Medeiros, D.M.2
  • 92
    • 0037974182 scopus 로고    scopus 로고
    • Modulatory effect of omega-3 polyunsaturated fatty acids on osteoblast function and bone metabolism
    • Watkins B.A., Yong L., Lippman H.E., Feng S. Modulatory effect of omega-3 polyunsaturated fatty acids on osteoblast function and bone metabolism. Prostaglandins Leukot. Essent. Fatty Acids 2003, 68:387-398.
    • (2003) Prostaglandins Leukot. Essent. Fatty Acids , vol.68 , pp. 387-398
    • Watkins, B.A.1    Yong, L.2    Lippman, H.E.3    Feng, S.4
  • 96
    • 0033831356 scopus 로고    scopus 로고
    • In vivo proton magnetic resonance spectroscopy in phenylketonuria
    • Moller H.E., Ullrich K., Weglage J. In vivo proton magnetic resonance spectroscopy in phenylketonuria. Eur. J. Pediatr. 2000, 159:S121-S125.
    • (2000) Eur. J. Pediatr. , vol.159
    • Moller, H.E.1    Ullrich, K.2    Weglage, J.3
  • 97
    • 59349089192 scopus 로고    scopus 로고
    • Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis
    • Albrecht J., Garbade S.F., Burgard P. Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci. Biobehav. Rev. 2009, 33:414-421.
    • (2009) Neurosci. Biobehav. Rev. , vol.33 , pp. 414-421
    • Albrecht, J.1    Garbade, S.F.2    Burgard, P.3
  • 101
    • 3242662769 scopus 로고    scopus 로고
    • Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care
    • Camfield C.S., Joseph M., Hurley T., Campbell K., Sanderson S., Camfield P.R. Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care. J. Pediatr. 2004, 145:53-57.
    • (2004) J. Pediatr. , vol.145 , pp. 53-57
    • Camfield, C.S.1    Joseph, M.2    Hurley, T.3    Campbell, K.4    Sanderson, S.5    Camfield, P.R.6
  • 102
    • 35248893859 scopus 로고    scopus 로고
    • Family conditions and dietary control in phenylketonuria
    • Olsson G.M., Montgomery S.M., Alm J. Family conditions and dietary control in phenylketonuria. J. Inherit. Metab. Dis. 2007, 30:708-715.
    • (2007) J. Inherit. Metab. Dis. , vol.30 , pp. 708-715
    • Olsson, G.M.1    Montgomery, S.M.2    Alm, J.3
  • 104
    • 34250023212 scopus 로고    scopus 로고
    • Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU
    • Moyle J.J., Fox A.M., Arthur M., Bynevelt M., Burnett J.R. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol. Rev. 2007, 17:91-101.
    • (2007) Neuropsychol. Rev. , vol.17 , pp. 91-101
    • Moyle, J.J.1    Fox, A.M.2    Arthur, M.3    Bynevelt, M.4    Burnett, J.R.5
  • 105
    • 33847646658 scopus 로고    scopus 로고
    • Assessing the informational needs of adolescents with a genetic condition: what do they want to know?
    • Szybowska M., Hewson S., Antle B.J., Babul-Hirji R. Assessing the informational needs of adolescents with a genetic condition: what do they want to know?. J. Genet. Couns. 2007, 16:201-210.
    • (2007) J. Genet. Couns. , vol.16 , pp. 201-210
    • Szybowska, M.1    Hewson, S.2    Antle, B.J.3    Babul-Hirji, R.4
  • 109
    • 33748552649 scopus 로고    scopus 로고
    • Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors
    • MacDonald A., Manji N., Evans S., Davies P., Daly A., Hendriksz C., Chakrapani A. Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors. J. Hum. Nutr. Diet. 2006, 19:375-381.
    • (2006) J. Hum. Nutr. Diet. , vol.19 , pp. 375-381
    • MacDonald, A.1    Manji, N.2    Evans, S.3    Davies, P.4    Daly, A.5    Hendriksz, C.6    Chakrapani, A.7
  • 111
    • 0032721879 scopus 로고    scopus 로고
    • Why don't physicians follow clinical practice guidelines? A framework for improvement
    • Cabana M.D., Rand C.S., Powe N.R., Wu A.W., Wilson M.H., Abboud P.A., Rubin H.R. Why don't physicians follow clinical practice guidelines? A framework for improvement. JAMA 1999, 282:1458-1465.
    • (1999) JAMA , vol.282 , pp. 1458-1465
    • Cabana, M.D.1    Rand, C.S.2    Powe, N.R.3    Wu, A.W.4    Wilson, M.H.5    Abboud, P.A.6    Rubin, H.R.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.