ADENYLOSUCCINASE DEFICIENCY - A NEWLY RECOGNIZED VARIANT

被引：20

作者：

JAEKEN, J ^{[1
]}

VANDENBERGH, F ^{[1
]}

VINCENT, MF ^{[1
]}

CASAER, P ^{[1
]}

VANDENBERGHE, G ^{[1
]}

机构：

[1] INT INST CELLULAR & MOLEC PATHOL,PHYSIOL CHEM LAB,B-1200 BRUSSELS,BELGIUM

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1992年 / 15卷 / 03期

关键词：

D O I：

10.1007/BF02435992

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：416 / 418

页数：3

共 7 条

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DEBREE, PK ;

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DEJONGE, HF .

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[2]

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[3] ADENYLOSUCCINASE DEFICIENCY - AN INBORN ERROR OF PURINE NUCLEOTIDE SYNTHESIS [J].

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WADMAN, SK ;

DURAN, M ;

VANSPRANG, FJ ;

BEEMER, FA ;

HOLL, RA ;

THEUNISSEN, PM ;

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VANDENBERGH, F ;

VINCENT, MF ;

VANDENBERGHE, G .

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[4]

JAEKEN J, 1984, LANCET, V2, P1058

[5] DETECTION OF 5'-PHOSPHORIBOSYL-4-(N-SUCCINYLCARBOXAMIDE)-5-AMINOIMIDAZOLE IN URINE BY USE OF THE BRATTON-MARSHALL REACTION - IDENTIFICATION OF PATIENTS DEFICIENT IN ADENYLOSUCCINATE LYASE ACTIVITY [J].

LAIKIND, PK ;

SEEGMILLER, JE ;

GRUBER, HE .

ANALYTICAL BIOCHEMISTRY, 1986, 156 (01) :81-90

[6] RADIOCHEMICAL ASSAY OF ADENYLOSUCCINASE - DEMONSTRATION OF PARALLEL LOSS OF ACTIVITY TOWARD BOTH ADENYLOSUCCINATE AND SUCCINYLAMINOIMIDAZOLE CARBOXAMIDE RIBOTIDE IN LIVER OF PATIENTS WITH THE ENZYME DEFECT [J].

VANDENBERGH, F ;

VINCENT, MF ;

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VANDENBERGHE, G .

ANALYTICAL BIOCHEMISTRY, 1991, 193 (02) :287-291

[7]

VANDENBERGHE G, 1986, VERSL BELG VER KINDE, V18, P42

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