Your browser doesn't support javascript.
loading
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek, Clara D M; Ramos, Rúben J; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y; van der Lee, Robin; Drögemöller, Britt I; Koster, Janet; Rousseau, Justine; Campeau, Philippe M; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A J; Willemsen, Michel A A P; Jans, Judith J; Ross, Colin J; Wintjes, Liesbeth T; Rodenburg, Richard J; Huigen, Marleen C D G; Jia, Zhengping; Waterham, Hans R; Wasserman, Wyeth W; Wanders, Ronald J A; Verhoeven-Duif, Nanda M; Zaki, Maha S; Wevers, Ron A.
Afiliação
  • van Karnebeek CDM; Departments of Pediatrics & Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam Gastro-enterology and Metabolism, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands; Department of Pediatrics / Medical Genetics, BC Children's Hospital Research Ins
  • Ramos RJ; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • Wen XY; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada; Department of Medicine, Physiology and LMP & Institute of Medical Science, University of Toronto, Toronto, ON M5G 2C4
  • Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
  • Gleeson JG; Department Neurosciences and Pediatric, Howard Hughes Medical Institute, University of California; Rady Children's Institute for Genomic Medicine, San Diego, CA 92093, USA.
  • Skrypnyk C; Department of Molecular Medicine and Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, Postal Code 328, Bahrain.
  • Brand-Arzamendi K; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada.
  • Karbassi F; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • van der Lee R; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Drögemöller BI; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.
  • Koster J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands.
  • Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Wang Y; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada.
  • Cao F; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Li M; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, Li Ka Sheng Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada.
  • Ruiter J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands.
  • Ciapaite J; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • Kluijtmans LAJ; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Willemsen MAAP; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Jans JJ; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • Ross CJ; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
  • Wintjes LT; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud U
  • Rodenburg RJ; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Amalia Children's Hospital, Department of Pediatrics, Radboud University Medic
  • Huigen MCDG; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Jia Z; Department of Neuroscience & Mental Health, The Hospital for Sick Children & Department of Physiology, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Waterham HR; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands.
  • Wasserman WW; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Wanders RJA; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam Gastro-enterology and Metabolism, 1105 AZ Amsterdam, the Netherlands.
  • Verhoeven-Duif NM; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Wevers RA; On behalf of "United for Metabolic Diseases," 1105AZ Amsterdam, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Am J Hum Genet ; 105(3): 534-548, 2019 09 05.
Article em En | MEDLINE | ID: mdl-31422819
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Ácido Aspártico / Alelos / Proteínas de Ligação a Ácido Graxo / Malatos / Mutação Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Ácido Aspártico / Alelos / Proteínas de Ligação a Ácido Graxo / Malatos / Mutação Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article