Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency

被引：6
|
作者：
Kure, Shigeo [1 ]
Shintaku, Haruo [2 ]
机构：
[1] Tohoku Univ, Grad Sch Med, Dept Pediat, Sendai, Miyagi, Japan
[2] Osaka City Univ, Grad Sch Med, Dept Pediat, Osaka, Japan
来源：
JOURNAL OF HUMAN GENETICS | 2019年 / 64卷 / 02期
关键词：
SAPROPTERIN DIHYDROCHLORIDE; TETRAHYDROBIOPTERIN; HYPERPHENYLALANINEMIA; PHENYLKETONURIA;
D O I：
10.1038/s10038-018-0529-5
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：67 / 71
页数：5
相关论文
共 50 条
  • [31] THE MUTATION SPECTRUM OF PHENYLALANINE HYDROXYLASE DEFICIENCY IN CYPRUS
    Georgiou, Th
    Ho, G.
    Dionysiou, M.
    Nicolaou, A.
    Vogazianos, M.
    Chappa, G.
    Stylianidou, G.
    Christodoulou, J.
    Drousiotou, A.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 24 - 24
  • [32] HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY
    MILSTIEN, S
    ORLOFF, S
    SPIELBERG, S
    BERLOW, S
    SCHULMAN, JD
    KAUFMAN, S
    PEDIATRIC RESEARCH, 1977, 11 (04) : 460 - 460
  • [33] The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
    Guttler, F
    Guldberg, P
    EUROPEAN JOURNAL OF PEDIATRICS, 1996, 155 : S6 - S10
  • [34] Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (vol 29, pg 167, 2008)
    Zurflueh, Marcel R.
    Zschocke, Johannes
    Lindner, Martin
    Feillet, Francois
    Chery, Celine
    Burlina, Alberto
    Stevens, Raymond C.
    Thoeny, Beat
    Blau, Nenad
    HUMAN MUTATION, 2008, 29 (08) : 1079 - 1079
  • [35] Mutational Spectrum in German Patients With Phenylalanine Hydroxylase Deficiency
    Aulehla-Scholz, Christa
    Heilbronner, Helmut
    HUMAN MUTATION, 2003, 21 (04)
  • [36] Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
    Nardecchia, Francesca
    Chiarotti, Flavia
    Carducci, Claudia
    Santagata, Silvia
    Valentini, Giulia
    Angeloni, Antonio
    Blau, Nenad
    Leuzzi, Vincenzo
    EUROPEAN JOURNAL OF PEDIATRICS, 2017, 176 (07) : 917 - 924
  • [37] TETRAHYDROBIOPTERIN RESPONSIVENESS IN BRAZILIAN PATIENTS WITH PHENYLALANINE HYDROXYLASE DEFICIENCY
    Giugliani, L.
    Sitta, A.
    Vargas, C. R.
    Santana da Silva, L. C.
    Nalin, T.
    Pereira, L. M.
    Schwartz, I. V. D.
    Giugliani, R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S104 - S104
  • [38] DIAGNOSIS OF PHENYLKETONURIA (PHENYLALANINE HYDROXYLASE DEFICIENCY TEMPORARY AND PERMANENT)
    STEPHENSON, JB
    MCBEAN, MS
    BMJ-BRITISH MEDICAL JOURNAL, 1967, 3 (5565): : 579 - +
  • [39] Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark
    Bayat, A.
    Yasmeen, S.
    Lund, A.
    Nielsen, J. B.
    Moller, L. B.
    CLINICAL GENETICS, 2016, 90 (03) : 247 - 251
  • [40] Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
    Francesca Nardecchia
    Flavia Chiarotti
    Claudia Carducci
    Silvia Santagata
    Giulia Valentini
    Antonio Angeloni
    Nenad Blau
    Vincenzo Leuzzi
    European Journal of Pediatrics, 2017, 176 : 917 - 924
12345