PRIMAPTERINURIA - A NEW VARIANT OF ATYPICAL PHENYLKETONURIA

被引：20

作者：

BLAU, N

CURTIUS, HC

KUSTER, T

MATASOVIC, A

SCHOEDON, G

DHONDT, JL

GUIBAUD, P

GIUDICI, T

BLASKOVICS, M

机构：

[1] UNIV ZURICH,DEPT PEDIAT,DIV CLIN CHEM,CH-8032 ZURICH,SWITZERLAND

[2] HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYONS,FRANCE

[3] UNIV LILLE,BIOCHIM LAB,LILLE,FRANCE

[4] CHILDRENS HOSP,DIV GENET,LOS ANGELES,CA 90027

[5] KAISER PERMANENTE,DEPT PEDIAT,FONTANA,CA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1989年 / 12卷

关键词：

D O I：

10.1007/BF03335415

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：335 / 338

页数：4

共 4 条

[1] 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 ;

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[2] 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

[3] GAS-CHROMATOGRAPHY MASS-SPECTROMETRY OF TRIMETHYLSILYL PTERIDINES [J].

KUSTER, T ;

NIEDERWIESER, A .

JOURNAL OF CHROMATOGRAPHY, 1983, 278 (02) :245-254

[4] HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY WITH COLUMN SWITCHING FOR THE ANALYSIS OF BIOGENIC-AMINE METABOLITES AND PTERINS [J].

NIEDERWIESER, A ;

STAUDENMANN, W ;

WETZEL, E .

JOURNAL OF CHROMATOGRAPHY, 1984, 290 (MAY) :237-246

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