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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Autor: Shimada S; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Ng BG; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Turgeon C; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Liedtke KL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Lam CT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Font-Montgomery E; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA., Lourenco CM; Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Umana LA; Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Uhles CL; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Nickerson DA; Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA., Cushing T; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA., Gates R; Division of Medical Genetics, Stanford University, Stanford, California, USA., Gomez-Ospina N; Division of Medical Genetics, Stanford University, Stanford, California, USA., Byers HM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Scalco FB; Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Martinez NN; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Smith L; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Malone S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Harris RV; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Scheffer IE; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA., Adams DR; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Freeze HH; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., Wolfe LA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Jul 05. Date of Electronic Publication: 2022 Jul 05.