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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary-Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J L; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Serrano Russi, Alvaro H; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Wolfe, Lynne A.
Afiliação
  • Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Eklund EA; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Shiryaev SA; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden.
  • Dong YY; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Abbott MA; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Asteggiano C; Department of Pediatrics, Baystate Children's Hospital, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.
  • Bamshad MJ; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina.
  • Barr E; Chair of Pharmacology, Catholic University of Cordoba, Cordoba, Argentina.
  • Bernstein JA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Chelakkadan S; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Christodoulou J; Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
  • Chung WK; Stanford University School of Medicine, Stanford, California, USA.
  • Ciliberto MA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.
  • Cousin J; Monash Children's Hospital, Melbourne, Australia.
  • Gardiner F; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Ghosh S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Graf WD; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
  • Grunewald S; Department of Pediatrics, Columbia University, New York, New York, USA.
  • Hammond K; Department of Medicine, Columbia University, New York, New York, USA.
  • Hauser NS; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Hoganson GE; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Houck KM; University of Melbourne, Austin Health, Melbourne, Australia.
  • Kohler JN; Department of Pediatrics Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Morava E; Division of Pediatric Neurology, Department of Pediatrics, Connecticut Children's; University of Connecticut, Farmington, Connecticut, USA.
  • Larson AA; Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Center, London, UK.
  • Liu P; Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Madathil S; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA.
  • McCormack C; Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois, USA.
  • Meeks NJL; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.
  • Miller R; Stanford University School of Medicine, Stanford, California, USA.
  • Monaghan KG; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
  • Nickerson DA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Palculict TB; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.
  • Papazoglu GM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Pletcher BA; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Scheffer IE; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Schenone AB; Stanford University School of Medicine, Stanford, California, USA.
  • Schnur RE; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
  • Si Y; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.
  • Rowe LJ; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA.
  • Serrano Russi AH; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
  • Russo RS; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Thabet F; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
  • Tuite A; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina.
  • Villanueva MM; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
  • Wang RY; University of Melbourne, Austin Health, Melbourne, Australia.
  • Webster RI; University of Melbourne, Royal Children's Hospital, Florey and Murdoch Institutes, Melbourne, Australia.
  • Wilson D; Laboratorio de Neuroquimica "Dr. N. A. Chamoles"-FESEN, Buenos Aires, Argentina.
  • Zalan A; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.
  • Wolfe LA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.
J Inherit Metab Dis ; 43(6): 1333-1348, 2020 11.
Article em En | MEDLINE | ID: mdl-32681751
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / N-Acetilglucosaminiltransferases / Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / N-Acetilglucosaminiltransferases / Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article