A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene

Mercimek-Magmutoglu, SPop, AKanhai, WFernandez Ojeda, MHolwerda, USmith, DLoeber, JGSchielen, PCJISalomons, GS2025-03-252025-03-2520162631951210.1016/j.gene.2015.08.045https://rivm.openrepository.com/handle/10029/649218A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT geneArticleGene 2016; 575(1):127-312025-03-25