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Journal of Inherited Metabolic Disease|May 17, 2014
Congenital disorders of glycosylation: new defects and still countingKyle Scott, Therese Gadomski, Tamas Kozicz, et al.Journal of Clinical Medicine|December 30, 2020
Implementation of a Standardized Post-Cesarean Delivery Order Set with Multimodal Combination Analgesia Reduces Inpatient Opioid UsageEran Bornstein, Gregg Husk, Erez Lenchner, et al.The Journal of Clinical Endocrinology and Metabolism|March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation DefectsWilly Morelle, Sven Potelle, Peter Witters, et al.The Journal of Pediatrics|May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 DeficiencySunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.Cell|December 25, 2012
Whole-genome sequencing in autism identifies hot spots for de novo germline mutationJacob J Michaelson, Yujian Shi, Madhusudan Gujral, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Oral D-galactose supplementation in PGM1-CDGSunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.Pageof 1