| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833763 | Molecular Genetics and Metabolism | 2012 | 4 Pages |
Abstract
⺠A new patient with GAMT deficiency. ⺠The longest treatment outcome reported so far. ⺠Shown improvement in guanidinoacetate on various treatment elements. ⺠Recommendations for cranial MR-spectroscopy for creatine deficiency syndromes. ⺠First report of clinical autism assessment in a patient with GAMT deficiency.
Keywords
Creatine Deficiency syndromesPDMS-2N-acetylaspartic acidNaAMRSGAMT deficiencyDSM-IV-TRBSID-IIIEAAGAAADI-RMRIAutismGlobal developmental delayMagnetic resonance imagingmagnetic resonance spectroscopybasal gangliawhite matterCSFCerebrospinal fluidAutism Diagnostic Interview-RevisedADOSCdSGuanidinoacetate
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Authors
Saadet Mercimek-Mahmutoglu, Mary Dunbar, Andrea Friesen, Susan Garret, Carol Hartnett, Linda Huh, Graham Sinclair, Sylvia Stockler, Stephen Wellington, Petra J.W. Pouwels, Gajja S. Salomons, Cornelis Jakobs,