Title: | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide |
Journal : | Molecular genetics and metabolism, 116, 4 |
Authors: | Stockler-Ipsiroglu S, Author ; Apatean D ; Battini R ; DeBrosse S ; Dessoffly K ; Edvarson S ; Eichler F ; Johnston KJ ; Koeller DM ; Nouioua S ; Tazir M ; Verma A ; Dowling MD ; Wierenga KJ ; Wierenga AM ; Zhang V ; Wong LJC |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 252 |
Languages: | English |
Keywords : | AGAT deficiency ; biological markers ; blood rates ; brain ; clinical presentation ; cohort studies ; creatine ; early diagnosis ; genetic mutations ; intellectual developmental disorder ; loongitudinal study ; MRI ; observational research ; pharmacotherapy |
Keywords: | Cerebral creatine deficiency;GATM;Intellectual disability;Myopathy; |
Pubmed / DOI : | DOI : 10.1016/j.ymgme.2015.10.003 / Pubmed : 26490222 |
See also : |