PARTIAL N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY - A NEW CASE WITH UNCONTROLLABLE MOVEMENT-DISORDERS

被引：18

作者：

BURLINA, AB

BACHMANN, C

WERMUTH, B

BORDUGO, A

FERRARI, V

COLOMBO, JP

ZACCHELLO, F

机构：

[1] UNIV BERN,INSELSPITAL,DEPT CLIN CHEM,CH-3010 BERN,SWITZERLAND

[2] UNIV LAUSANNE,CHU VAUDOIS,DEPT CLIN CHEM,CH-1011 LAUSANNE,SWITZERLAND

来源：

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

关键词：

D O I：

10.1007/BF02435986

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：395 / 398

页数：4

共 7 条

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COLOMBO, JP .

JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (02) :191-193

[3]

BATSHAW ML, 1990, 5TH INT C INB ERR ME

[4]

COLOMBO JP, 1982, J CLIN CHEM CLIN BIO, V20, P325

[5] LATE-ONSET FORM OF PARTIAL N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY [J].

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[6] DETERMINATION OF URINARY OROTATE EXCRETION BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY [J].

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DUSSINI, N ;

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ZACCHELLO, F .

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[7] N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY - DIAGNOSIS, MANAGEMENT AND FOLLOW-UP OF A RARE DISORDER OF AMMONIA DETOXICATION [J].

SCHUBIGER, G ;

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BARBEN, P ;

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