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

โœ Scribed by P.E. Sijens; D.-J. Reijngoud; R.J. Soorani-Lunsing; M. Oudkerk; F.J. van Spronsen


Book ID
116987775
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
309 KB
Volume
88
Category
Article
ISSN
1096-7192

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## Abstract As a model for guanidinoacetate methyltransferase (GAMT) deficiency in humans, a gene knockout mouse model was generated. Here we report on several metabolic abnormalities in these mice, observed by in vivo and in vitro MR spectroscopy. In ^1^H MR spectra of brain and hindleg muscle a c