期刊
MOLECULAR GENETICS AND METABOLISM
卷 88, 期 1, 页码 100-102出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2005.10.013
关键词
argininosuccinate lyase deficiency; magnetic resonance spectroscopy; urea cycle defect
MR spectroscopy in a patient with argininosuccinate lyase deficiency revealed elevated cerebral guanidinoacetate signals, indicating that the phenomenon of increased levels of this compound in brain tissue is not limited to creatine deficiencies. (c) 2005 Elsevier Inc. All rights reserved.
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