GTP CYCLOHYDROLASE-I DEFICIENCY, A NEW ENZYME DEFECT CAUSING HYPERPHENYLALANINEMIA WITH NEOPTERIN, BIOPTERIN, DOPAMINE, AND SEROTONIN DEFICIENCIES AND MUSCULAR HYPOTONIA

被引：152

作者：

NIEDERWIESER, A

BLAU, N

WANG, M

JOLLER, P

ATARES, M

CARDESAGARCIA, J

机构：

[1] UNIV EXTREMADURA,HOSP MOTHER & CHILD,NIH,BADAJOZ,SPAIN

[2] UNIV EXTREMADURA,FAC MED,BADAJOZ,SPAIN

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1984年 / 141卷 / 04期

关键词：

D O I：

10.1007/BF00572762

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：208 / 214

页数：7

共 33 条

[1]

ARAI N, 1982, PEDIATRICS, V70, P426

[2]

BARTHOLOME K, 1977, PEDIATRICS, V59, P757

[3] DIAGNOSTIC AND THERAPEUTIC ASPECTS OF DIHYDROBIOPTERIN DEFICIENCY [J].

BECK, B ;

BRANDT, NJ ;

CHRISTENSEN, E ;

NIEDERWIESER, A ;

PEDERSEN, PS .

ACTA PAEDIATRICA SCANDINAVICA, 1983, 72 (03) :449-454

[4] GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I ASSAY IN HUMAN AND RAT-LIVER USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY OF NEOPTERIN PHOSPHATES AND GUANINE-NUCLEOTIDES [J].

BLAU, N ;

NIEDERWIESER, A .

ANALYTICAL BIOCHEMISTRY, 1983, 128 (02) :446-452

[5]

BLAU N, 1982, BIOCH CLIN ASPECTS P, V1, P103

[6] INVIVO STUDIES OF THE TRYPTOPHAN-5-HYDROXYLASE SYSTEM - QUANTITATION OF SEROTONIN AND TRYPTAMINE USING GAS CHROMATOGRAPHY-MASS FRAGMENTOGRAPHY [J].

CURTIUS, HC ;

FARNER, H ;

REY, F .

JOURNAL OF CHROMATOGRAPHY, 1980, 199 (OCT) :171-179

[7] MASS FRAGMENTOGRAPHY OF DOPAMINE AND 6-HYDROXYDOPAMINE - APPLICATION TO DETERMINATION OF DOPAMINE IN HUMAN BRAIN BIOPSIES FROM CAUDATE-NUCLEUS [J].

CURTIUS, HC ;

WOLFENSBERGER, M ;

STEINMANN, B ;

REDWEIK, U ;

SIEGFRIED, J .

JOURNAL OF CHROMATOGRAPHY, 1974, 99 (NOV6) :529-540

[8]

CURTIUS HC, 1983, PTERIDINES FOLIC ACI, P765

[9]

Danks D M, 1978, J Inherit Metab Dis, V1, P49, DOI 10.1007/BF01801843

[10]

Duran M, 1978, J Inherit Metab Dis, V1, P175, DOI 10.1007/BF01805591

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