Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency

Patricia Hall(Emory University), Kimiyo Raymond(Mayo Clinic in Arizona), Hudson H. Freeze(Discovery Institute), John Alexander(University of Florida), Ghazia Asif, Carlos R. Ferreira(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Caroline M. Watson, Kim K. Nickander(Mayo Clinic), Lynne A. Wolfe(National Institutes of Health), William A. Gahl(National Institute of Child Health), Christina Lam(Seattle Children's Hospital), J. Daniel Sharer(University of Alabama at Birmingham), Gerard T. Berry(Boston Children's Hospital)
Molecular Genetics and Metabolism
March 10, 2018
Cited by 43


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