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Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

✍ Scribed by S.U. Dhar; F. Scaglia; F.-Y. Li; L. Smith; B.A. Barshop; C.M. Eng; R.H. Haas; J.V. Hunter; T. Lotze; B. Maranda; M. Willis; J.E. Abdenur; E. Chen; W. O’Brien; L-J.C. Wong

Book ID
116988426
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
334 KB
Volume
96
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