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

S. Mercimek-Mahmutoglu, A. Pop,W. Kanhai, M. Fernandez Ojeda, U. Holwerda,D. Smith,J.G. Loeber, P.C.J.I. Schielen,G.S. Salomons

Gene（2016）

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摘要

•Carrier frequency of GAMT deficiency•Functional characterization of missense variants•Newborn screening of GAMT deficiency•Blood dot spot GAA and creatine measurements by tandem mass spectrometry

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关键词

GAMT,GAA,EGFP,GABA,1H-MRS,CSF,GDD,CNS,LC–MS/MS,ORF,PEI,GC–MS,UPLC,SD,SDM,MS/MS,UPLC–MS/MS,SIFT,LOVD

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