THE MUTATION SPECTRUM OF PHENYLALANINE HYDROXYLASE DEFICIENCY IN CYPRUS

被引：0
|
作者：
Georgiou, Th [1 ]
Ho, G. [2 ,3 ]
Dionysiou, M. [1 ]
Nicolaou, A. [4 ]
Vogazianos, M. [4 ]
Chappa, G. [5 ]
Stylianidou, G. [5 ]
Christodoulou, J. [2 ,3 ]
Drousiotou, A. [1 ]
机构：
[1] Cyprus Inst Neurol & Genet, Dept Biochem Genet, Nicosia, Cyprus
[2] Childrens Hosp, Genet Metab Dis Res Unit, Westmead, NSW, Australia
[3] Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
[4] Ctr Prevent Paediat, Limassol, Cyprus
[5] Archbishop Makarios III Hosp, Dept Paediat Neurol, Nicosia, Cyprus
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 98卷 / 1-2期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
188
引用
收藏
页码：24 / 24
页数：1
相关论文
共 50 条
  • [31] MUTATION ANALYSIS IN FAMILIES WITH DISCORDANT PHENOTYPES OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - INHERITANCE AND EXPRESSION OF THE HYPERPHENYLALANINAEMIAS
    GULDBERG, P
    LEVY, HL
    KOCH, R
    BERLIN, CM
    FRANCOIS, B
    HENRIKSEN, KF
    GUTTLER, F
    JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (06) : 645 - 651
  • [32] The Molecular Basis of Phenylalanine Hydroxylase Deficiency in Croatia
    Zschocke, Johannes
    Preusse, Astrid
    Sarnavka, Vladimir
    Fumic, Ksenija
    Mardesic, Dusko
    Hoffmann, Georg F.
    Baric, Ivo
    HUMAN MUTATION, 2003, 21 (04)
  • [33] Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
    Singh, Rani H.
    Rohr, Fran
    Frazier, Dianne
    Cunningham, Amy
    Mofidi, Shideh
    Ogata, Beth
    Splett, Patricia L.
    Moseley, Kathryn
    Huntington, Kathleen
    Acosta, Phyllis B.
    Vockley, Jerry
    Van Calcar, Sandra C.
    GENETICS IN MEDICINE, 2014, 16 (02) : 121 - 131
  • [34] Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Kure, S
    Hou, DC
    Ohura, T
    Iwamoto, H
    Suzuki, S
    Sugiyama, N
    Sakamoto, O
    Fujii, K
    Matsubara, Y
    Narisawa, K
    JOURNAL OF PEDIATRICS, 1999, 135 (03): : 375 - 378
  • [35] Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency
    Giugliani, Luciana
    Sitta, Angela
    Vargas, Carmen R.
    Santana-da-Silva, Luiz C.
    Nalin, Tatiele
    Saraiva-Pereira, Maria Luiza
    Giugliani, Roberto
    Schwartzs, Ida Vanessa D.
    JORNAL DE PEDIATRIA, 2011, 87 (03) : 245 - 251
  • [36] DIAGNOSIS OF PHENYLALANINE-HYDROXYLASE DEFICIENCY (PHENYLKETONURIA)
    BERRY, HK
    HSIEH, MH
    BOFINGER, MK
    SCHUBERT, WK
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1982, 136 (02): : 111 - 114
  • [37] 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
  • [38] Mutation to phenylalanine of tyrosine 371 in tyrosine hydroxylase increases the affinity for phenylalanine
    Daubner, SC
    Fitzpatrick, PF
    BIOCHEMISTRY, 1998, 37 (46) : 16440 - 16444
  • [39] 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
  • [40] The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening
    Georgiou, Theodoros
    Ho, Gladys
    Vogazianos, Marios
    Dionysiou, Maria
    Nicolaou, Alexia
    Chappa, Georgia
    Nicolaides, Paola
    Stylianidou, Goula
    Christodoulou, John
    Drousiotou, Anthi
    CLINICAL BIOCHEMISTRY, 2012, 45 (7-8) : 588 - 592
12345