Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Santamaria-Araujo JA"'
Autor:
Schwahn BC; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, UK. Electronic address: bernd.schwahn@mft.nhs.uk., Hart C; Department of Clinical Chemistry, Sheffield Children's Hospital, South Yorkshire and Bassetlaw Pathology, Sheffield, UK., Smith LA; Department of Clinical Chemistry, Sheffield Children's Hospital, South Yorkshire and Bassetlaw Pathology, Sheffield, UK., Hart A; Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK., Fairbanks L; Purine Research Lab, Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London, UK., Arenas-Hernandez M; Purine Research Lab, Biochemical Sciences, Synnovis, Guys & St Thomas' NHS Foundation Trust, London, UK., Turner C; WellChild Laboratory, Evelina London Children's Hospital, St Thomas' Hospital, London, UK., Horman A; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK., Rust S; Paediatric Neuropsychology Service, Harrington Building, Royal Manchester Children's Hospital, UK., Santamaria-Araujo JA; Department of Biochemistry, University of Cologne, Cologne, Germany., Mayr SJ; Department of Biochemistry, University of Cologne, Cologne, Germany., Schwarz G; Department of Biochemistry, University of Cologne, Cologne, Germany., Sharrard M; Metabolic Department, Sheffield Children's Hospital, Sheffield, UK.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Dec; Vol. 143 (4), pp. 108598. Date of Electronic Publication: 2024 Oct 29.
Autor:
Kaczmarek AT; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Bender D; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Gehling T; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Kohl JB; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Daimagüler HS; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany., Santamaria-Araujo JA; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany., Liebau MC; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany., Koy A; Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany., Cirak S; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany., Schwarz G; Department of Chemistry, Institute of Biochemistry, University of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Mar; Vol. 45 (2), pp. 169-182. Date of Electronic Publication: 2021 Nov 24.
Autor:
Macha A; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Liebsch F; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Fricke S; Division Cell Physiology, Zoological Institute, Technische Universität Braunschweig, 38106 Braunschweig, Germany., Hetsch F; Division Cell Physiology, Zoological Institute, Technische Universität Braunschweig, 38106 Braunschweig, Germany.; Institute of Pathophysiology, University Medical Center of the Johannes Gutenberg University Mainz, 55128 Mainz, Germany., Neuser F; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Johannes L; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Kress V; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Djémié T; Applied & Translational Neurogenomics Group, VIB-Center for Molecular Genetics, VIB, Antwerp B-2610 , Belgium., Santamaria-Araujo JA; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, 1020 Brussels, Belgium.; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, 1070 Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, 1050 Brussels, Belgium., Aeby A; Pediatric Neurology, Queen Fabiola Children Hospital, Université Libre de Bruxelles, 1020 Brussels, Belgium., Van Bogaert P; Departement of Pediatric Neurology, CHU d'Angers, and Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers, 49100 Angers, France., Dejanovic B; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB-Center for Molecular Genetics, VIB, Antwerp B-2610 , Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium.; Neurology Department, University Hospital Antwerp, 2610 Antwerp, Belgium., Meier JC; Division Cell Physiology, Zoological Institute, Technische Universität Braunschweig, 38106 Braunschweig, Germany., Schwarz G; Institute of Biochemistry, Department of Chemistry, University of Cologne, 50674 Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Mar 21; Vol. 31 (6), pp. 901-913.
Autor:
Kinsinger, Morgan1 (AUTHOR), Ivanisevic, Jelena2 (AUTHOR), Mithal, Divakar S.1,2 (AUTHOR) DMithal@luriechildrens.org
Publikováno v:
BMC Medical Genomics. 12/18/2024, Vol. 17 Issue 1, p1-7. 7p.
Autor:
Brennan, Emma J.1 (AUTHOR), Monk, Kelly R.1 (AUTHOR), Li, Jiaxing1 (AUTHOR) jiaxingli2024@gmail.com
Publikováno v:
Neural Development. 7/27/2024, Vol. 19 Issue 1, p1-13. 13p.
Autor:
Bender D; Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany., Kaczmarek AT; Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany., Santamaria-Araujo JA; Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany., Stueve B; Abteilung für Kinderneurologie, Epileptologie und Sozialpädiatrie, Kliniken Köln, Kinderkrankenhaus, 51058 Cologne, Germany., Waltz S; Abteilung für Kinderneurologie, Epileptologie und Sozialpädiatrie, Kliniken Köln, Kinderkrankenhaus, 51058 Cologne, Germany., Bartsch D; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany., Kurian L; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany., Cirak S; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany.; Klinik für Kinderheilkunde und Jugendmedizin, Uniklinikum Köln, 50937 Cologne, Germany., Schwarz G; Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne Germany.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2019 Sep 01; Vol. 28 (17), pp. 2885-2899.
Autor:
Schwahn BC; Division of Evolution & Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., van Spronsen F; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands., Misko A; Massachusetts General Hospital Department of Neurology, Boston, Massachusetts, USA., Pavaine J; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, University of Manchester, Manchester, UK.; Division of Informatics, Imaging & Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Holmes V; Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Spiegel R; Department of Pediatrics Unit B, Emek Medical Center, Afula, Israel., Schwarz G; Center for Molecular Medicine Cologne, Köln, Germany., Wong F; Monash Children's Hospital/Hudson Institute of Medical Research/Monash University, Melbourne, Victoria, Australia., Horman A; Great Ormond Street Hospital, London, UK., Pitt J; Victorian Clinical Genetics Services, The Royal Children's Hospital, Parkville, Victoria, Australia., Sass JO; RG Inborn Error of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany., Lubout C; Department of Metabolic Diseases, Beatrix Children's, University Medical Center (UMC) Groningen, Groningen, Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 598-623. Date of Electronic Publication: 2024 Apr 16.
Autor:
Mayr SJ; Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany., Sass JO; Bioanalytics & Biochemistry, Department of Natural Science, Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany., Vry J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany., Mader I; Faculty of Medicine, Department of Neuroradiology, University of Freiburg, Freiburg, Germany., Hövener JB; Department of Radiology, Medical Physics, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.; Section for Biomedical Imaging and MOIN CC, University Medical Center Schleswig Holstein, University of Kiel, Kiel, Germany., Reiss J; Institut für Humangenetik, Universität Göttingen, Göttingen, Germany., Santamaria-Araujo JA; Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany., Schwarz G; Institute of Biochemistry, Department of Chemistry, University of Cologne, Zülpicher Str. 47, 50674, Köln, Germany. gschwarz@uni-koeln.de.; Center for Molecular Medicine Cologne), University of Cologne, Cologne, Germany. gschwarz@uni-koeln.de., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2018 Mar; Vol. 41 (2), pp. 187-196. Date of Electronic Publication: 2018 Jan 24.
Autor:
Kumar A; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Dejanovic B; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Hetsch F; TU Braunschweig, Zoological Institute, Division of Cell Physiology, Braunschweig, Germany., Semtner M; Cellular Neurosciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Fusca D; Biocenter, Institute for Zoology, University of Cologne, Cologne, Germany., Arjune S; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Santamaria-Araujo JA; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Winkelmann A; TU Braunschweig, Zoological Institute, Division of Cell Physiology, Braunschweig, Germany.; Biocenter, Institute for Zoology, University of Cologne, Cologne, Germany., Ayton S; The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Bush AI; The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia., Kloppenburg P; Biocenter, Institute for Zoology, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Meier JC; TU Braunschweig, Zoological Institute, Division of Cell Physiology, Braunschweig, Germany., Schwarz G; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Belaidi AA; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2017 Dec 01; Vol. 127 (12), pp. 4365-4378. Date of Electronic Publication: 2017 Nov 06.
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