Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

Saadet Mercimek-Mahmutoglu*, Joseph Ndika, Warsha Kanhai, Thierry Billette de Villemeur, David Cheillan, Ernst Christensen, Nathalie Dorison, Vickie Hannig, Yvonne Hendriks, Floris C. Hofstede, Laurence Lion-Francois, Allan M. Lund, Helen Mundy, Gaele Pitelet, Miquel Raspall-Chaure, Jessica A. Scott-Schwoerer, Katalin Szakszon, Vassili Valayannopoulos, Monique Williams, Gajja S. Salomons

*Corresponding author for this work

    Research output: Contribution to journal › Article › peer-review

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    Biochemistry, Genetics and Molecular Biology