HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY

被引:12
|
作者
MILSTIEN, S
ORLOFF, S
SPIELBERG, S
BERLOW, S
SCHULMAN, JD
KAUFMAN, S
机构
[1] NIMH,BETHESDA,MD 20014
[2] NICHHD,BETHESDA,MD 20014
[3] UNIV WISCONSIN,WAISMAN CTR,MADISON,WI 53706
关键词
D O I
10.1203/00006450-197704000-00542
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:460 / 460
页数:1
相关论文
共 50 条
  • [21] Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia
    Bosco, P
    Cali, F
    Meli, C
    Mollica, F
    Zammarchi, E
    Cerone, R
    Vanni, C
    Palillo, L
    Greco, D
    Romano, V
    HUMAN MUTATION, 1998, 11 (03) : 240 - 243
  • [22] SEVERITY OF MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE INFLUENCES PHENYLALANINE METABOLISM IN PHENYLKETONURIA AND HYPERPHENYLALANINEMIA HETEROZYGOTES
    SVENSSON, E
    ISELIUS, L
    HAGENFELDT, L
    JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (02) : 215 - 222
  • [23] FETAL MATURATION OF THE SYNTHESIS OF THE COFACTOR OF PHENYLALANINE-HYDROXYLASE
    DHONDT, JL
    FARRIAUX, JP
    PEDIATRIC RESEARCH, 1986, 20 (10) : 1037 - 1037
  • [24] DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia
    Item, Chike Bellarmine
    Farhadi, Somayeh
    Schanzer, Andrea
    Greber-Platzer, Susanne
    CLINICAL BIOCHEMISTRY, 2017, 50 (12) : 729 - 732
  • [25] Ineffectiveness of tetrahydrobiopterin in phenylalanine hydroxylase deficiency
    Porta, F.
    Mussa, A.
    Spada, M.
    Ponzone, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 80 - 80
  • [26] Biopterin responsive phenylalanine hydroxylase deficiency
    Matalon, R
    Koch, R
    Michals-Matalon, K
    Moseley, K
    Surendran, S
    Tyring, S
    Erlandsen, H
    Gamez, A
    Stevens, RC
    Romstad, A
    Moller, LB
    Guttler, F
    GENETICS IN MEDICINE, 2004, 6 (01) : 27 - 32
  • [27] Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency
    Ponzone, Alberto
    Porta, Francesco
    Mussa, Alessandro
    Alluto, Alessandra
    Ferraris, Silvio
    Spada, Marco
    METABOLISM-CLINICAL AND EXPERIMENTAL, 2010, 59 (05): : 645 - 652
  • [28] DIFFERENT PHENOTYPES FOR PHENYLALANINE HYDROXYLASE DEFICIENCY
    GUTTLER, F
    HANSEN, G
    ANNALS OF CLINICAL BIOCHEMISTRY, 1977, 14 (MAY) : 124 - 134
  • [29] TREATMENT OF PHENYLALANINE-HYDROXYLASE DEFICIENCY
    SMITH, I
    ACTA PAEDIATRICA, 1994, 83 : 60 - 65
  • [30] Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
    Ye Jun
    Qiu Wen-Juan
    Han Lian-Shu
    Zhang Hui-Wen
    Gu Xue-Fan
    中华医学杂志英文版, 2015, 128 (21) : 2979 - 2980