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Volumn 18, Issue 4-5, 1998, Pages 659-665
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An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
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Author keywords
13C2 guanidinoacetate; Control values; GAMT deficiency; GC MS; Guanidinoacetate; Stable isotope dilution
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Indexed keywords
GUANIDINOACETATE METHYLTRANSFERASE;
GUANIDINOACETIC ACID;
METHYLTRANSFERASE;
UNCLASSIFIED DRUG;
AMNION FLUID ANALYSIS;
ARTICLE;
BLOOD ANALYSIS;
CASE REPORT;
CEREBROSPINAL FLUID ANALYSIS;
CONTROLLED STUDY;
DERIVATIZATION;
DRUG DETERMINATION;
ENZYME DEFICIENCY;
GAS CHROMATOGRAPHY;
HUMAN;
HUMAN CELL;
HUMAN TISSUE;
ISOTOPE DILUTION ASSAY;
MASS SPECTROMETRY;
NEWBORN;
NORMAL HUMAN;
PRIORITY JOURNAL;
QUANTITATIVE ASSAY;
TECHNIQUE;
URINALYSIS;
AMINO ACID METABOLISM, INBORN ERRORS;
CHILD;
CREATINE;
GAS CHROMATOGRAPHY-MASS SPECTROMETRY;
GLYCINE;
GUANIDINOACETATE N-METHYLTRANSFERASE;
HUMANS;
METHYLTRANSFERASES;
RADIOISOTOPE DILUTION TECHNIQUE;
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EID: 0032446322
PISSN: 07317085
EISSN: None
Source Type: Journal
DOI: 10.1016/S0731-7085(98)00280-5 Document Type: Article |
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Times cited : (76)
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References (8)
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