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Volumn 86, Issue SUPPL., 2005, Pages 81-85

Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience

Author keywords

Phenylalanine; Phenylalanine hydroxylase; Phenylketonuria; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; TETRAHYDROBIOPTERIN;

EID: 28844501717     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.06.008     Document Type: Article
Times cited : (31)

References (15)
  • 4
    • 0036213209 scopus 로고    scopus 로고
    • Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
    • U. Lassker, J. Zschocke, N. Blau, and R. Santer Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings J. Inherit. Metab. Dis. 25 2002 65 70
    • (2002) J. Inherit. Metab. Dis. , vol.25 , pp. 65-70
    • Lassker, U.1    Zschocke, J.2    Blau, N.3    Santer, R.4
  • 7
    • 0036928279 scopus 로고    scopus 로고
    • High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002
    • C. Bernegger, and N. Blau High frequency of tetrahydrobiopterin- responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002 Mol. Genet. Metab. 77 2002 304 313
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 304-313
    • Bernegger, C.1    Blau, N.2
  • 9
    • 0036430354 scopus 로고    scopus 로고
    • Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia
    • T. Bardelli, M.A. Donati, S. Gasperini, F. Ciani, F. Belli, N. Blau, A. Morrone, and E. Zammarchi Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia Mol. Genet. Metab. 77 2002 260 266
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 260-266
    • Bardelli, T.1    Donati, M.A.2    Gasperini, S.3    Ciani, F.4    Belli, F.5    Blau, N.6    Morrone, A.7    Zammarchi, E.8
  • 10
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • N. Blau, and H. Erlandsen The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency Mol. Genet. Metab. 82 2004 101 111
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 12
    • 0037331447 scopus 로고    scopus 로고
    • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
    • L.J. Spaapen, and M.E. Rubio-Gozalbo Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art Mol. Genet. Metab. 78 2003 93 99
    • (2003) Mol. Genet. Metab. , vol.78 , pp. 93-99
    • Spaapen, L.J.1    Rubio-Gozalbo, M.E.2
  • 14
  • 15
    • 8844256618 scopus 로고    scopus 로고
    • Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: Implications for tetrahydropiopterin-responsive hyperphenylalaninemia
    • B. Thony, Z. Ding, and A. Martinez Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydropiopterin-responsive hyperphenylalaninemia FEBS Lett. 577 2004 507 511
    • (2004) FEBS Lett. , vol.577 , pp. 507-511
    • Thony, B.1    Ding, Z.2    Martinez, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.