Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency

被引：18

作者：

Verhoeven, NM

Schor, DSM

Roos, B

Battini, R

Stöckler-Ipsiroglu, S

Salomons, GS

Jakobs, C

机构：

[1] VU Univ, Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

[2] Univ Pisa, DUNPI, IRCCS, Fdn Stella Maris, I-56018 Pisa, Italy

[3] Univ Hosp Vienna, Dept Pediat, A-1090 Vienna, Austria

[4] Gen Hosp Vienna, A-1090 Vienna, Austria

来源：

CLINICAL CHEMISTRY | 2003年 / 49卷 / 05期

关键词：

D O I：

10.1373/49.5.803

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

[No abstract available]

引用

页码：803 / 805

页数：3

共 9 条

[1]

Bianchi MC, 2000, ANN NEUROL, V47, P511

[2]

DIONISI VC, 1987, PEDIATR RES, V22, P364

[3] Arginine:glycine amidinotransferase deficiency:: The third inborn error of creatine metabolism in humans [J].

Item, CB ;

Stöckler-Ipsiroglu, S ;

Stromberger, C ;

Mühl, A ;

Alessandrì, MG ;

Bianchi, MC ;

Tosetti, M ;

Fornai, F ;

Cioni, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1127-1133

[4] Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia [J].

Näntö-Salonen, K ;

Komu, M ;

Lundbom, N ;

Heinänen, K ;

Alanen, A ;

Sipilä, I ;

Simell, O .

NEUROLOGY, 1999, 53 (02) :303-307

[5] BIOSYNTHESIS OF GUANIDINOACETIC ACID .1. PURIFICATION AND PROPERTIES OF TRANSAMIDINASE [J].

RATNER, S ;

ROCHOVANSKY, O .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1956, 63 (02) :277-295

[6] BIOSYNTHESIS OF GUANIDINOACETIC ACID .2. MECHANISM OF AMIDINE GROUP TRANSFER [J].

RATNER, S ;

ROCHOVANSKY, O .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1956, 63 (02) :296-315

[7] INHIBITION OF ARGININE-GLYCINE AMIDINOTRANSFERASE BY ORNITHINE - A POSSIBLE MECHANISM FOR THE MUSCULAR AND CHORIORETINAL ATROPHIES IN GYRATE ATROPHY OF THE CHOROID AND RETINA WITH HYPERORNITHINEMIA [J].

SIPILA, I .

BIOCHIMICA ET BIOPHYSICA ACTA, 1980, 613 (01) :79-84

[8] An accurate stable isotope dilution gas chromatographic mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency [J].

Struys, EA ;

Jansen, EEW ;

ten Brink, HJ ;

Verhoeven, NM ;

van der Knaap, MS ;

Jakobs, C .

JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS, 1998, 18 (4-5) :659-665

[9] SIMPLIFIED ASSAY FOR TRANSAMIDINASE ACTIVITIES OF RAT KIDNEY HOMOGENATES [J].

VANPILSUM, JF ;

TAYLOR, D ;

ZAKIS, B ;

MCCORMICK, P .

ANALYTICAL BIOCHEMISTRY, 1970, 35 (01) :277-+

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