- Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.
Molecular genetics and metabolism (2005-12-14)
P E Sijens, D-J Reijngoud, R J Soorani-Lunsing, M Oudkerk, F J van Spronsen
PMID16343968
초록
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.
MATERIALS