Records 1 - 2
| Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Molecular genetics and genomics : MGG 2015 May .
Desroches Caro-Lyne, Patel Jaina, Wang Peixiang, Minassian Berge, Marshall Christian R, Salomons Gajja S, Mercimek-Mahmutoglu Saad
| Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Molecular genetics and metabolism 2012 Aug .
Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS