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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic, Silvia; Bird, Matthew J; Emmerzaal, Tim L; Wong, Sunnie Y; Felgueira, Catarina; Stiers, Kyle M; Sabbagh, Leila; Himmelreich, Nastassja; Poschet, Gernot; Windmolders, Petra; Verheijen, Jan; Witters, Peter; Altassan, Ruqaiah; Honzik, Tomas; Eminoglu, Tuba F; James, Phillip M; Edmondson, Andrew C; Hertecant, Jozef; Kozicz, Tamas; Thiel, Christian; Vermeersch, Pieter; Cassiman, David; Beamer, Lesa; Morava, Eva; Ghesquière, Bart.
  • Radenkovic S; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology,
  • Bird MJ; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology,
  • Emmerzaal TL; Department of Anatomy, Radboud University Medical Centre, Donders Institute for Brain Cognition and Behaviour, 6535 HR Nijmegen, the Netherlands.
  • Wong SY; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA.
  • Felgueira C; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Stiers KM; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
  • Sabbagh L; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA.
  • Himmelreich N; Center for Child and Adolescent Medicine, Department I, University of Heidelberg, 69120 Heidelberg, Germany.
  • Poschet G; Centre for Organismal Studies, University of Heidelberg, 69120 Heidelberg, Germany.
  • Windmolders P; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Verheijen J; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
  • Witters P; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Altassan R; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium; Medical Genetics Department, Montréal Children's Hospital, McGill University, Montreal, QC H4A3J1, Canada.
  • Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, 12108 Prague, Czech Republic.
  • Eminoglu TF; Department of Pediatric Metabolism and Nutrition, Ankara University School of Medicine, 06560 Ankara, Turkey.
  • James PM; Phoenix Children's Medical Group, Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
  • Edmondson AC; Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Hertecant J; Department of Pediatrics, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Kozicz T; Department of Anatomy, Radboud University Medical Centre, Donders Institute for Brain Cognition and Behaviour, 6535 HR Nijmegen, the Netherlands; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, LA, USA; Center of Individualized Medicine, Department of Clinical G
  • Thiel C; Center for Child and Adolescent Medicine, Department I, University of Heidelberg, 69120 Heidelberg, Germany.
  • Vermeersch P; Clinical Department of Laboratory Medicine, University Hospitals Leuven, 3000 Leuven, Belgium; Department of Cardiovascular Sciences, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
  • Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Beamer L; Biochemistry Department, University of Missouri, Columbia, MO 65211, USA.
  • Morava E; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium. Electronic address: morava-kozicz.eva@mayo.edu.
  • Ghesquière B; Metabolomics Expertise Center, Center for Cancer Biology, VIB Center for Cancer Biology, 3000 Leuven, Belgium; Metabolomics Expertise Center, Department of Oncology, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address: bart.ghesquiere@kuleuven.vib.be.
Am J Hum Genet ; 104(5): 835-846, 2019 05 02.
Article en En | MEDLINE | ID: mdl-30982613
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Uridina Difosfato Galactosa / Uridina Difosfato Glucosa / Trastornos Congénitos de Glicosilación / Fibroblastos / Galactosa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Uridina Difosfato Galactosa / Uridina Difosfato Glucosa / Trastornos Congénitos de Glicosilación / Fibroblastos / Galactosa Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article