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Volumn 104, Issue SUPPL., 2011, Pages

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

Author keywords

BH4; Phenylalanine; Phenylketonuria; PKU; Sapropterin; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

EID: 82755197582     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.024     Document Type: Article
Times cited : (13)

References (14)
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    • Fiege B., Blau N. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J. Pediatr. 2007, 150:627-630.
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    • Fiege, B.1    Blau, N.2
  • 5
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    • Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
    • Karacic I., Meili D., Sarnavka V., Heintz C., Thony B., Ramadza D.P., Fumic K., Mardesic D., Baric I., Blau N. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Mol. Genet. Metab. 2009, 97:165-171.
    • (2009) Mol. Genet. Metab. , vol.97 , pp. 165-171
    • Karacic, I.1    Meili, D.2    Sarnavka, V.3    Heintz, C.4    Thony, B.5    Ramadza, D.P.6    Fumic, K.7    Mardesic, D.8    Baric, I.9    Blau, N.10
  • 6
    • 33645686672 scopus 로고    scopus 로고
    • The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    • Leuzzi V., Carducci C., Carducci C., Chiarotti F., Artiola C., Giovanniello T., Antonozzi I. The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. J. Inherit. Metab. Dis. 2006, 29:38-46.
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 38-46
    • Leuzzi, V.1    Carducci, C.2    Carducci, C.3    Chiarotti, F.4    Artiola, C.5    Giovanniello, T.6    Antonozzi, I.7
  • 8
    • 77952118055 scopus 로고    scopus 로고
    • Available at, Sapropterin dihydrochloride (Kuvan)
    • Sapropterin dihydrochloride (Kuvan) European summary of product characteristics Available at. http://www.medicines.org.uk/EMC/medicine/21362/SPC/Kuvan+100+mg+soluble+tablets/.
    • European summary of product characteristics
  • 11
    • 69449106872 scopus 로고    scopus 로고
    • Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control
    • Lindner M., Gramer G., Garbade S.F., Burgard P. Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. J. Inherit. Metab. Dis. 2009, 32:514-522.
    • (2009) J. Inherit. Metab. Dis. , vol.32 , pp. 514-522
    • Lindner, M.1    Gramer, G.2    Garbade, S.F.3    Burgard, P.4
  • 12
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    • Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
    • Nielsen J.B., Nielsen K.E., Guttler 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    Guttler, F.3
  • 13


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.