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Volumn 107, Issue 3, 2012, Pages 294-301

Long-term treatment with tetrahydrobiopterin in phenylketonuria: Treatment strategies and prediction of long-term responders

Author keywords

Hyperphenylalaninemia; Phenylketonuria; Sapropterin; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN; TYROSINE;

EID: 84867901717     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.021     Document Type: Article
Times cited : (22)

References (28)
  • 1
    • 0000134296 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase deficiency
    • McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.)
    • Scriver C.R., Kaufman S. Phenylalanine hydroxylase deficiency. The Metabolic and Molecular Basis of Inherited Disease 2001, 1667-1724. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.).
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 1667-1724
    • Scriver, C.R.1    Kaufman, S.2
  • 4
    • 34547697475 scopus 로고    scopus 로고
    • Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
    • Sapropterin Research Group
    • Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., Dorenbaum A., Sapropterin Research Group Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 2007, 11(370):504-510.
    • (2007) Lancet , vol.11 , Issue.370 , pp. 504-510
    • Levy, H.L.1    Milanowski, A.2    Chakrapani, A.3    Cleary, M.4    Lee, P.5    Trefz, F.K.6    Whitley, C.B.7    Feillet, F.8    Feigenbaum, A.S.9    Bebchuk, J.D.10    Christ-Schmidt, H.11    Dorenbaum, A.12
  • 7
    • 84897922518 scopus 로고    scopus 로고
    • Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment
    • (Mar 9. [Epub ahead of print]) (PMID: 20217238).
    • F.K. Trefz, D. Scheible, G. Frauendienst-Egger, Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment, J. Inherit. Metab. Dis. (2010, Mar 9. [Epub ahead of print]) (PMID: 20217238).
    • (2010) J. Inherit. Metab. Dis
    • Trefz, F.K.1    Scheible, D.2    Frauendienst-Egger, G.3
  • 8
    • 59749083239 scopus 로고    scopus 로고
    • Effect of BH(4) supplementation on phenylalanine tolerance
    • Burlina A., Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J. Inherit. Metab. Dis. 2009, 32:40-45.
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 40-45
    • Burlina, A.1    Blau, N.2
  • 9
    • 84867866819 scopus 로고    scopus 로고
    • Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life
    • (Mar 6. [Epub ahead of print]) (PMID: 22391997).
    • B. Ziesch, J. Weigel, A. Thiele, U. Mütze, C. Rohde, U. Ceglarek, J. Thiery, W. Kiess, S. Beblo, Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life, J. Inherit. Metab. Dis. (2012 Mar 6. [Epub ahead of print]) (PMID: 22391997).
    • (2012) J. Inherit. Metab. Dis
    • Ziesch, B.1    Weigel, J.2    Thiele, A.3    Mütze, U.4    Rohde, C.5    Ceglarek, U.6    Thiery, J.7    Kiess, W.8    Beblo, S.9
  • 10
    • 79952556731 scopus 로고    scopus 로고
    • BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
    • Singh R.H., Quirk M.E., Douglas T.D., Brauchla M.C. BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up. J. Inherit. Metab. Dis. 2010, 33:689-695.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , pp. 689-695
    • Singh, R.H.1    Quirk, M.E.2    Douglas, T.D.3    Brauchla, M.C.4
  • 11
    • 28844484633 scopus 로고    scopus 로고
    • Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
    • Hennermann J.B., Bührer C., Blau N., Vetter B., Mönch E. Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol. Genet. Metab. 2005, 86:S86-S90.
    • (2005) Mol. Genet. Metab. , vol.86
    • Hennermann, J.B.1    Bührer, C.2    Blau, N.3    Vetter, B.4    Mönch, E.5
  • 12
    • 0036928279 scopus 로고    scopus 로고
    • High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002
    • Bernegger C., Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol. Genet. Metab. 2002, 77:304-313.
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 304-313
    • Bernegger, C.1    Blau, N.2
  • 17
    • 0028706944 scopus 로고
    • Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia
    • Güttler F., Guldberg K.F. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia. Acta Paediatr. 1994, 407(Suppl.):46-56.
    • (1994) Acta Paediatr. , vol.407 , Issue.SUPPL. , pp. 46-56
    • Güttler, F.1    Guldberg, K.F.2
  • 18
    • 82755189438 scopus 로고    scopus 로고
    • Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
    • Blau N., Hennermann J.B., Langenbeck U., Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol. Genet. Metab. 2011, 104(Suppl.):S2-S9.
    • (2011) Mol. Genet. Metab. , vol.104 , Issue.SUPPL.
    • Blau, N.1    Hennermann, J.B.2    Langenbeck, U.3    Lichter-Konecki, U.4
  • 20
    • 0034050873 scopus 로고    scopus 로고
    • Phenylketonuria and hyperphenylalaninemia in Eastern Germany: a characteristic molecular profile and 15 novel mutations
    • Hennermann J.B., Vetter B., Wolf C., Windt E., Bührdel P., Seidel J., Mönch E., Kulozik A.E. Phenylketonuria and hyperphenylalaninemia in Eastern Germany: a characteristic molecular profile and 15 novel mutations. Hum. Mutat. 2000, 15:254-260.
    • (2000) Hum. Mutat. , vol.15 , pp. 254-260
    • Hennermann, J.B.1    Vetter, B.2    Wolf, C.3    Windt, E.4    Bührdel, P.5    Seidel, J.6    Mönch, E.7    Kulozik, A.E.8
  • 26
    • 77649233104 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
    • Nielsen J.B., Nielsen K.E., Güttler F. Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J. Inherit. Metab. Dis. 2010, 33:9-16.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , pp. 9-16
    • Nielsen, J.B.1    Nielsen, K.E.2    Güttler, F.3
  • 28
    • 79952698283 scopus 로고    scopus 로고
    • Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system
    • Leandro J., Leandro P., Flatmark T. Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system. Biochim. Biophys. Acta 2011, 1812:602-612.
    • (2011) Biochim. Biophys. Acta , vol.1812 , pp. 602-612
    • Leandro, J.1    Leandro, P.2    Flatmark, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.