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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G; Feichtinger, René G; Achleitner, Melanie T; Lawrence Merritt Ii, J; Pérez, Belén; Ugarte, Magdalena; Grünewald, Stephanie; Riela, Anthony R; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, René; Lund, Allan M; Mayr, Johannes A; Rodriguez-Pombo, Pilar; Van Hove, Johan L K.
Afiliação
  • Arribas-Carreira L; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain.
  • Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Swanson MA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Farris J; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
  • Østergaard E; Department of Biology, Saginaw Valley State University, University Center, MI, USA.
  • Tsiakas K; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark.
  • Hempel M; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Aquaviva-Bourdain C; Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Koutsoukos S; Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Centre de Biologie Est, CHU de Lyon, Lyon, France.
  • Stence NV; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Magistrati M; Department of Radiology, University of Colorado, Aurora, CO, USA.
  • Spector EB; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Kronquist K; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Christensen M; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA.
  • Karstensen HG; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.
  • Feichtinger RG; Molecular Genetics Lab, Precision DX, Children's Hospital Colorado, Aurora, CO, USA.
  • Achleitner MT; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark.
  • Lawrence Merritt Ii J; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark.
  • Pérez B; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Ugarte M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Grünewald S; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Riela AR; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain.
  • Julve N; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain.
  • Arnoux JB; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.
  • Haldar K; Texas Child Neurology, Plano, TX, USA.
  • Donnini C; Department of Pediatrics, IMED Valencia Hospital, Valencia, Spain.
  • Santer R; Centre de Reference des Maladies Hereditaires, Necker Enfants Malades, Paris, France.
  • Lund AM; Boler-Parseghian Center for Rare and Neglected Disease, and Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
  • Mayr JA; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Rodriguez-Pombo P; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Van Hove JLK; Centre for Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet - Copenhagen University Hospital, Copenhagen, Denmark.
Hum Mol Genet ; 32(6): 917-933, 2023 03 06.
Article em En | MEDLINE | ID: mdl-36190515
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperglicinemia não Cetótica Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperglicinemia não Cetótica Idioma: En Ano de publicação: 2023 Tipo de documento: Article