HYPERPHENYLALANINEMIA PRESUMABLY DUE TO CARBINOLAMINE DEHYDRATASE DEFICIENCY - LOADING TESTS WITH PTERIN DERIVATIVES

被引:6
作者
BLAU, N
KIERAT, L
CURTIUS, HC
BLASKOVICS, M
GIUDICI, T
机构
[1] KAISER PERMANENTE,DEPT PEDIAT,FONTANA,CA
[2] CHILDRENS HOSP,DIV MED GENET,LOS ANGELES,CA 90027
关键词
D O I
10.1007/BF02435990
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:409 / 412
页数:4
相关论文
共 12 条
[1]  
BLASKOVICS M, 1988, NEW ENGL J MED, V319, P1611
[2]   NEW VARIANT OF HYPERPHENYLALANINEMIA WITH EXCRETION OF 7-SUBSTITUTED PTERINS [J].
BLAU, N ;
DHONDT, JL ;
GUIBAUD, P ;
KUSTER, T ;
CURTIUS, HC .
EUROPEAN JOURNAL OF PEDIATRICS, 1988, 148 (02) :176-176
[3]   PRIMAPTERINURIA - A NEW VARIANT OF ATYPICAL PHENYLKETONURIA [J].
BLAU, N ;
CURTIUS, HC ;
KUSTER, T ;
MATASOVIC, A ;
SCHOEDON, G ;
DHONDT, JL ;
GUIBAUD, P ;
GIUDICI, T ;
BLASKOVICS, M .
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 :335-338
[4]  
CURTIUS HC, 1990, J BIOL CHEM, V265, P3923
[5]   PRIMAPTERIN, ANAPTERIN, AND 6-OXO-PRIMAPTERIN, 3 NEW 7-SUBSTITUTED PTERINS IDENTIFIED IN A PATIENT WITH HYPERPHENYLALANINEMIA [J].
CURTIUS, HC ;
KUSTER, T ;
MATASOVIC, A ;
BLAU, N ;
DHONDT, JL .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1988, 153 (02) :715-721
[6]   7-SUBSTITUTED PTERINS - FORMATION DURING PHENYLALANINE HYDROXYLATION IN THE ABSENCE OF DEHYDRATASE [J].
CURTIUS, HC ;
ADLER, C ;
REBRIN, I ;
HEIZMANN, C ;
GHISLA, S .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 172 (03) :1060-1066
[7]   CONVERSION OF 6-SUBSTITUTED TETRAHYDROPTERINS TO 7-ISOMERS VIA PHENYLALANINE HYDROXYLASE-GENERATED INTERMEDIATES [J].
DAVIS, MD ;
KAUFMAN, S ;
MILSTIEN, S .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (02) :385-389
[8]   NEONATAL HYPERPHENYLALANINEMIA PRESUMABLY CAUSED BY A NEW VARIANT OF BIOPTERIN SYNTHETASE DEFICIENCY [J].
DHONDT, JL ;
GUIBAUD, P ;
ROLLAND, MO ;
DORCHE, C ;
ANDRE, S ;
FORZY, G ;
HAYTE, JM .
EUROPEAN JOURNAL OF PEDIATRICS, 1988, 147 (02) :153-157
[9]  
DHONDT JL, 1987, UNCONJUGATED PTERINS, P257
[10]   ANALYSIS OF REDUCED FORMS OF BIOPTERIN IN BIOLOGICAL TISSUES AND FLUIDS [J].
FUKUSHIMA, T ;
NIXON, JC .
ANALYTICAL BIOCHEMISTRY, 1980, 102 (01) :176-188