메뉴 건너뛰기




Volumn 25, Issue 3, 2015, Pages 108-112

Phenylketonuria

Author keywords

Hyperphenylalaninaemia; Phenylketonuria; PKU; Sapropterin therapy

Indexed keywords

AMINO ACID DERIVATIVE; AMMONIA LYASE; GLYCOPROTEIN; LARGE NEUTRAL AMINO ACID; PHENYLALANINE; SAPROPTERIN; UNCLASSIFIED DRUG;

EID: 84922876442     PISSN: 17517222     EISSN: 1878206X     Source Type: Journal    
DOI: 10.1016/j.paed.2014.10.006     Document Type: Review
Times cited : (11)

References (14)
  • 1
    • 72249095815 scopus 로고    scopus 로고
    • White matter pathology in phenylketonuria
    • Anderson P.J., Leuzzi V. White matter pathology in phenylketonuria. Mol Genet Metab 2010, 99(suppl 1):S3-9.
    • (2010) Mol Genet Metab , vol.99 , pp. S3-9
    • Anderson, P.J.1    Leuzzi, V.2
  • 2
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Blau N., Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 2004 Jun, 82:101-111.
    • (2004) Mol Genet Metab , vol.82 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 3
    • 84882382871 scopus 로고    scopus 로고
    • Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
    • Blau N. Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias. Expert Opin Drug Metab Toxicol 2013 Sep, 9:1207-1218.
    • (2013) Expert Opin Drug Metab Toxicol , vol.9 , pp. 1207-1218
    • Blau, N.1
  • 4
    • 45849111413 scopus 로고    scopus 로고
    • Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function
    • DeRoche K., Welsh M. Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. Dev Neuropsychol 2008, 33:474-504.
    • (2008) Dev Neuropsychol , vol.33 , pp. 474-504
    • DeRoche, K.1    Welsh, M.2
  • 5
    • 79952547216 scopus 로고    scopus 로고
    • Nutritional issues in treating phenylketonuria
    • Feillet F., Agostoni C. Nutritional issues in treating phenylketonuria. JInherit Metab Dis 2010 Feb 12, 33(6):659-664.
    • (2010) JInherit Metab Dis , vol.33 , Issue.6 , pp. 659-664
    • Feillet, F.1    Agostoni, C.2
  • 6
    • 13244265703 scopus 로고    scopus 로고
    • Maternal phenylketonuria: the importance of early control during pregnancy
    • Koch R. Maternal phenylketonuria: the importance of early control during pregnancy. Arch Dis Child 2005, 90:114-115.
    • (2005) Arch Dis Child , vol.90 , pp. 114-115
    • Koch, R.1
  • 7
    • 0027533685 scopus 로고
    • Recommendations on the dietary management of phenylketonuria
    • MRC Recommendations on the dietary management of phenylketonuria. Arch Dis Child 1993, 68:426-427.
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 8
    • 84922894536 scopus 로고    scopus 로고
    • Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry: PKUDOS; PKU-MOMS sub-registry. ctgov:NCT00778206
    • Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry: PKUDOS; PKU-MOMS sub-registry. ctgov:NCT00778206.
  • 9
    • 72249098974 scopus 로고    scopus 로고
    • Future treatment strategies in phenylketonuria
    • Van Spronsen F.J. Future treatment strategies in phenylketonuria. Mol Genet Med 2010, 99(suppl 1):S90-95.
    • (2010) Mol Genet Med , vol.99 , pp. S90-95
    • Van Spronsen, F.J.1
  • 10
    • 84898470326 scopus 로고    scopus 로고
    • Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
    • Singh R.H., Rohr F., Frazier D., et al. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med 2014 Feb, 16:121-131.
    • (2014) Genet Med , vol.16 , pp. 121-131
    • Singh, R.H.1    Rohr, F.2    Frazier, D.3
  • 11
    • 84898422426 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase deficiency: diagnosis and management guideline
    • Vockley J., Andersson H.C., Antshel K.M., et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 2014 Feb, 16:188-200.
    • (2014) Genet Med , vol.16 , pp. 188-200
    • Vockley, J.1    Andersson, H.C.2    Antshel, K.M.3
  • 12
    • 84922894535 scopus 로고    scopus 로고
    • http://www.newbornbloodspot.screening.nhs.uk.
  • 13
    • 84922894534 scopus 로고    scopus 로고
    • http://www.bh4.org.
  • 14
    • 84922894533 scopus 로고    scopus 로고
    • http://www.nspku.org.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.