Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shino ShimadaBobby George NgAmy L WhiteKim K NickanderColeman TurgeonKristen L LiedtkeChristina T LamEsperanza Font-MontgomeryCharles M LourencoMiao HeDawn S PeckLuis A UmanaCrescenda L UhlesDevon HaynesPatricia G WheelerMichael J BamshadDeborah A NickersonTom CushingRyan GatesNatalia Gomez-OspinaHeather M Byersnull nullFernanda B ScalcoNoelia N MartinezRani SachdevLacey SmithAnnapurna PoduriStephen MaloneRebekah V HarrisIngrid Eileen SchefferSergio D RosenzweigDavid R AdamsWilliam A GahlMay Christine V MalicdanKimiyo M RaymondHudson H FreezeLynne A WolfePublished in: Journal of medical genetics (2022)
The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity. Molecular analysis, combined with biochemical testing, is important for diagnosis. In MOGS-CDG, urine oligosaccharide analysis via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry can be used as a reliable biochemical test for screening and confirmation of disease.
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