講演情報
[O30-2]MOGS-CDGの臨床的、生化学的および遺伝学的特徴：まれな先天性糖鎖合成異常症
○島田 姿野1,2, Bobby Ng3, Amy White4, Kim Nickander4, Christina Lam5, Esperanza Font-Montgomery6, Charles Lourenco7, Miao He8, Luis Umana9, Devon Haynes10, Heather Byers11, Rani Sachdev12, Stephen Malone13, Ingrid Scheffer14, David Adams2, William Gahl2, May Malicdan2, Kimiyo Raymond4, Hudson Freeze3, Lynne Wolfe2 (1.順天堂大学医学部付属静岡病院, 2.Medical Genetic Branch, National Human Genome Research Institute, Bethesda, USA, 3.Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA, 4.Biochemical Genetics Laboratory, Mayo Clinic Department of Laboratory Medicine and Pathology, Rochester, Minnesota, USA, 5.Division of Genetic Medicine, Department of Pediatrics, Seattle Childrens Hospital, Seattle, Washington, USA, 6.University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA, 7.Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University of Sao Paulo, Sao Paulo, Brazil, 8.Department of Pathology and Laboratory Medicine, The Childrens Hospital of Philadelphia, Philadelphia, Pennsylvania, USA, 9.Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA, 10.Division of Genetics, Arnold Palmer Hospital for Children, Orland, Florida, USA, 11.Division of Medical Genetics, Stanford University, Stanford, California, USA, 12.Center for Clinical Genetics, Sydney Childrens Hospital Randwick, Randwick, New South Wales, Australia, 13.Department of Neurosciences, Queensland Childrens Hospital, South Brisbane, Queensland, Australia, 14.Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia)
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