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

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

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.

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Veröffentlicht in:Molecular genetics and metabolism 2006-05, Vol.88 (1), p.100-102
Hauptverfasser: Sijens, P E, Reijngoud, D-J, Soorani-Lunsing, R J, Oudkerk, M, Van Spronsen, FJ
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1096-7192
DOI:10.1016/j.ymgme.2005.10.013