URINARY DIHYDROXANTHOPTERIN IN THE DIAGNOSIS OF MALIGNANT HYPERPHENYLALANINEMIA AND PHENYLKETONURIA

被引:22
|
作者
SCHLESINGER, P [1 ]
WATSON, BM [1 ]
COTTON, RGH [1 ]
DANKS, DM [1 ]
机构
[1] UNIV MELBOURNE,DEPT PAEDIAT,PARKVILLE 3052,VICTORIA,AUSTRALIA
关键词
D O I
10.1016/0009-8981(79)90113-X
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:187 / 195
页数:9
相关论文
共 50 条
  • [31] DETERMINATION OF PHENYLALANINE-HYDROXYLASE IN PATIENTS WITH PHENYLKETONURIA AND HYPERPHENYLALANINEMIA
    BARTHOLOME, K
    LUTZ, P
    MONATSSCHRIFT KINDERHEILKUNDE, 1976, 124 (05) : 421 - 422
  • [32] 2 SIBLINGS OF HYPERPHENYLALANINEMIA - SUGGESTION TO A GENETIC VARIANT OF PHENYLKETONURIA
    TADA, K
    YOSHIDA, T
    MOCHIZUKI, K
    KONNO, T
    NAKAGAWA, H
    YOKOYAMA, Y
    TAKADA, G
    ARAKAWA, T
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1970, 100 (03): : 249 - 253
  • [33] EFFECTS OF UNTREATED MATERNAL PHENYLKETONURIA AND HYPERPHENYLALANINEMIA ON THE FETUS - REPLY
    LEVY, HL
    WAISBREN, SE
    NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (01): : 53 - 53
  • [34] NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA IN NORTHERN-IRELAND - FREQUENT MUTATION ALLOWS SCREENING AND EARLY DIAGNOSIS
    ZSCHOCKE, J
    GRAHAM, CA
    STEWART, FJ
    CARSON, DJ
    NEVIN, NC
    HUMAN MUTATION, 1994, 4 (02) : 114 - 118
  • [35] PHENYLALANINE HYDROXYLASE AND PROTEIN LOADING TEST IN PHENYLKETONURIA AND HYPERPHENYLALANINEMIA
    BARTHOLOME, K
    SCHMIDT, H
    LUTZ, P
    EUROPEAN JOURNAL OF PEDIATRICS, 1979, 130 (03) : 206 - 206
  • [36] Hepatocyte Transplantation Transforms Severe Phenylketonuria to Mild Hyperphenylalaninemia
    Smets, Francoise N.
    Stephenne, Xavier
    Debray, Guillaume
    Menten, Renaud
    Reding, Raymond
    Najimi, Mustapha
    Sokal, Etienne M.
    GASTROENTEROLOGY, 2011, 140 (05) : S967 - S967
  • [37] CURRENT SITUATION WITH MALIGNANT HYPERPHENYLALANINEMIA
    DANKS, DM
    COTTON, RGH
    FIRGAIRA, F
    SCHLESINGER, P
    AUSTRALIAN PAEDIATRIC JOURNAL, 1978, 14 (04): : 305 - 305
  • [38] SUBSTITUTION THERAPY FOR MALIGNANT HYPERPHENYLALANINEMIA
    MATTHIEU, JM
    NIEDERWIESER, A
    FAWER, CL
    CALAME, A
    GAUTIER, E
    HELVETICA PAEDIATRICA ACTA, 1987, 42 (01) : 76 - 76
  • [39] URINARY PHENYLALANINE METABOLITES IN HYPERPHENYLALANINEMIA
    KOEPP, P
    KLINISCHE WOCHENSCHRIFT, 1976, 54 (21): : 1047 - 1053
  • [40] DISCRIMINATION OF HETEROZYGOTES FOR PHENYLKETONURIA, PERSISTENT HYPERPHENYLALANINEMIA AND CONTROLS BY PHENYLALANINE LOADING
    BLITZER, MG
    BAILEYWILSON, JE
    SHAPIRA, E
    CLINICA CHIMICA ACTA, 1986, 161 (03) : 347 - 352