Your browser doesn't support javascript.
loading
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A.
Afiliação
  • Shimada S; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.
  • Ng BG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • White AL; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, 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; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Font-Montgomery E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Lourenco CM; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • He M; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA.
  • Peck DS; Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.
  • Umana LA; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil.
  • Uhles CL; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Haynes D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Wheeler PG; Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Bamshad MJ; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA.
  • Nickerson DA; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
  • Cushing T; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA.
  • Gates R; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Gomez-Ospina N; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Byers HM; Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA.
  • Scalco FB; Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Martinez NN; Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Sachdev R; Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Poduri A; Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
  • Malone S; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
  • Harris RV; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
  • Scheffer IE; School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
  • Rosenzweig SD; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Adams DR; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Gahl WA; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
  • Malicdan MCV; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Raymond KM; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
  • Freeze HH; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Wolfe LA; Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA.
J Med Genet ; 2022 Jul 05.
Article em En | MEDLINE | ID: mdl-35790351
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos