Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Christina LamCarlos FerreiraDonna KrasnewichCamilo ToroLea LathamWadih M ZeinTanya LehkyCarmen BrewerEva H BakerAudrey ThurmCristan A FarmerSergio D RosenzweigJonathan J LyonsJohn M SchreiberAndrea GropmanShilpa LingalaMarc G GhanyBeth SolomonEllen F MacnamaraMariska DavidsConstantine A StratakisVirginia KimonisWilliam A GahlLynne WolfePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.Genet Med 19 2, 160-168.