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Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Batzios, Spyros; Tal, Galit; DiStasio, Andrew T; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley H; Mandel, Hanna; Steinbach, Peter J; Yi, Ling; Fair, Summer R; Hester, Mark E; Drousiotou, Anthi; Kaler, Stephen G.
Affiliation
  • Batzios S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK.
  • Tal G; Department of Pediatrics B, Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus and The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
  • DiStasio AT; Center for Gene Therapy, Nationwide Children's Hospital, Abigail Wexner Research Institute, and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43205, USA.
  • Peng Y; Center for Gene Therapy, Nationwide Children's Hospital, Abigail Wexner Research Institute, and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43205, USA.
  • Charalambous C; Department of Basic and Clinical Sciences, University of Nicosia Medical School, Nicosia 1683, Cyprus.
  • Nicolaides P; Department of Basic and Clinical Sciences, University of Nicosia Medical School, Nicosia 1683, Cyprus.
  • Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre,Nijmegen 6525 GA, The Netherlands.
  • Korman SH; Department of Pediatrics B, Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus and The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
  • Mandel H; Medical Genetics Institute, Wilf Children's Hospital, Shaare Zedek Medical Center, Jerusalem 9103102, Israel.
  • Steinbach PJ; Department of Genetics, Western Galilee Medical Center, Nahariya 2210001, Israel.
  • Yi L; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
  • Fair SR; Section on Translational Neuroscience, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hester ME; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Drousiotou A; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Kaler SG; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.
Hum Mol Genet ; 31(24): 4121-4130, 2022 12 16.
Article in En | MEDLINE | ID: mdl-35913762
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Copper / Neurodegenerative Diseases / Copper Transporter 1 Type of study: Guideline Limits: Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Copper / Neurodegenerative Diseases / Copper Transporter 1 Type of study: Guideline Limits: Humans / Infant / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Reino Unido Country of publication: Reino Unido