Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

Araujo, HCSmit, WVerhoeven, NMSalomons, GSSilva, SVasconcelos, RTomas, Hde Almeida, ITJakobs, CDuran, M2015-12-302015-12-302005AMERICAN JOURNAL OF MEDICAL GENETICS PART A. - Vol. 133A, n. 2 (2005), p. 122-1271552-4825http://hdl.handle.net/10451/21415Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to tapplication/pdfengGenetics & HeredityGuanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationjournal articlehttp://dx.doi.org/10.1002/ajmg.a.30226