Your browser doesn't support javascript.
loading
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M.
Afiliação
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands. s.ferdinandusse@amsterdamumc.nl.
  • McWalter K; GeneDx, Gaithersburg, MD, USA.
  • Te Brinke H; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • IJlst L; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Mooijer PM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • van Lint AEM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Pras-Raves M; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Wever E; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Millan F; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Guillen Sacoto MJ; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
  • Begtrup A; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Tarnopolsky M; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Brady L; GeneDx, Gaithersburg, MD, USA.
  • Ladda RL; GeneDx, Gaithersburg, MD, USA.
  • Sell SL; GeneDx, Gaithersburg, MD, USA.
  • Nowak CB; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.
  • Douglas J; Department of Pediatrics, McMaster University Children's Hospital, Hamilton, ON, Canada.
  • Tian C; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.
  • Ulm E; Department of Pediatrics, Penn State Children's Hospital, Hershey, PA, USA.
  • Perlman S; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Drack AV; The Feingold Center for Children, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Chong K; Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Martin N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Brault J; Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
  • Brokamp E; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
  • Toro C; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.
  • Gahl WA; Mount Sinai Hospital, Department of Obstetrics and Gynecology, Prenatal Diagnosis and Medical Genetics Program, Toronto, ON, Canada.
  • Macnamara EF; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.
  • Wolfe L; Vanderbilt University Medical Center, Department of Pediatrics, Nashville, TN, USA.
  • Waisfisz Q; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Zwijnenburg PJG; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Ziegler A; NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Smith R; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Ellingwood S; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Gaebler-Spira D; Genetic department, University Hospital Angers, Angers, France.
  • Bakhtiari S; Genetic department, University Hospital Angers, Angers, France.
  • Kruer MC; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.
  • van Kampen AHC; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA.
  • Wanders RJA; Feinberg Northwestern University School of Medicine, Shirley Ryan Ability Lab, Chicago, IL, USA.
  • Waterham HR; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Cassiman D; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Vaz FM; Bioinformatics Laboratory, Department of Epidemiology and Data Science, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Genet Med ; 23(12): 2467, 2021 Dec.
Article em En | MEDLINE | ID: mdl-34667295

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article