PRENATAL-DIAGNOSIS OF ATYPICAL PHENYLKETONURIA

被引：6

作者：

BLAU, N

NIEDERWIESER, A

CURTIUS, HC

KIERAT, L

LEIMBACHER, W

MATASOVIC, A

BINKERT, F

LEHMANN, H

LEUPOLD, D

GUARDAMAGNA, O

PONZONE, A

SCHMIDT, H

COSKUN, T

OZALP, I

GIUGLIANI, R

BIASUCCI, G

GIOVANNINI, M

机构：

[1] UNIV ZURICH,DEPT PEDIAT,DIV CLIN CHEM,CH-8006 ZURICH,SWITZERLAND

[2] UNIV ZURICH,INST GENET,CH-8006 ZURICH,SWITZERLAND

[3] UNIV ULM,DEPT PEDIAT,D-7900 ULM,FED REP GER

[4] UNIV TURIN,DEPT PEDIAT,I-10124 TURIN,ITALY

[5] UNIV HEIDELBERG,DEPT PEDIAT,D-6900 HEIDELBERG,FED REP GER

[6] HACETTEPE UNIV,INST CHILD HLTH,DEPT PEDIAT NUTR & METAB,ANKARA,TURKEY

[7] HOSP PORTO ALEGRE,DEPT MED GENET,PORTO ALEGRE,BRAZIL

[8] UNIV MILAN,DEPT PEDIAT,I-20122 MILAN,ITALY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1989年 / 12卷

关键词：

D O I：

10.1007/BF03335403

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：295 / 298

页数：4

共 6 条

[1]

ARAI N, 1982, PEDIATRICS, V70, P426

[2]

BLAU N, 1988, ANNU REV NUTR, V8, P185

[3]

BLAU N, 1987, UNCONJUGATED PTERINS, P237

[4] 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

[5] PRENATAL-DIAGNOSIS OF DIHYDROBIOPTERIN SYNTHETASE DEFICIENCY, A VARIANT FORM OF PHENYLKETONURIA [J].

NIEDERWIESER, A ;

SHINTAKU, H ;

HASLER, T ;

CURTIUS, HC ;

LEHMANN, H ;

GUARDAMAGNA, O ;

SCHMIDT, H .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (03) :176-178

[6] TETRAHYDROBIOPTERIN BIOSYNTHETIC-PATHWAY AND DEFICIENCY [J].

NIEDERWIESER, A ;

CURTIUS, HC .

ENZYME, 1987, 38 (1-4) :302-311

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