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Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 100-102

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

(5) Sijens, P E a Reijngoud, D J b Soorani Lunsing, R J a Oudkerk, M a van Spronsen, F J b

a UNIVERSITY MEDICAL CENTER GRONINGEN (Netherlands)

b UNIVERSITY OF GRONINGEN (Netherlands)

Author keywords

Argininosuccinate lyase deficiency; Magnetic resonance spectroscopy; Urea cycle defect

Indexed keywords

ARGININOSUCCINATE LYASE; BIOLOGICAL MARKER; CREATINE; GUANIDINOACETIC ACID; DRUG DERIVATIVE; GLYCINE;

AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; ARGININOSUCCINATE LYASE DEFICIENCY; ARTICLE; BRAIN LEVEL; BRAIN TISSUE; CASE REPORT; DISEASE MARKER; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; NEUROBIOLOGY; NEUROCHEMISTRY; NEUROIMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SIGNAL TRANSDUCTION; TISSUE DISTRIBUTION; UREA CYCLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; INFANT; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY;

AMINO ACID METABOLISM, INBORN ERRORS; ARGININOSUCCINATE LYASE; BRAIN CHEMISTRY; CHILD, PRESCHOOL; GLYCINE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY;

EID: 33646069937 PISSN: 10967192 EISSN: 10967206 Source Type: Journal
DOI: 10.1016/j.ymgme.2005.10.013 Document Type: Article

Times cited : (17)

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