Zobrazeno 1 - 10
of 691
pro vyhledávání: '"Urea Cycle Disorders, Inborn"'
Autor:
Richard E; Centro de Biología Molecular Severo Ochoa UAM-CSIC, IUBM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain., Martínez-Pizarro A; Centro de Biología Molecular Severo Ochoa UAM-CSIC, IUBM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain., Desviat LR; Centro de Biología Molecular Severo Ochoa UAM-CSIC, IUBM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1269-1277. Date of Electronic Publication: 2024 Oct 24.
Autor:
Gougeard N; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain., Sancho-Vaello E; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Fernández-Murga ML; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Martínez-Sinisterra B; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Loukili-Hassani B; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland., Marco-Marín C; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain., Rubio V; Instituto de Biomedicina de Valencia, IBV-CSIC, Valencia, Spain.; Group 739, Centro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER-ISCIII) at the IBV-CSIC, Valencia, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1194-1212. Date of Electronic Publication: 2024 May 13.
Autor:
Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK., Langendonk JG; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Dao M; Reference Center for Inherited Metabolic MaMEA, Hôpital Necker-Enfants Malades, Paris, France., Gomes DC; Reference Center for Inherited Metabolic Disorders, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Douillard C; Service d'endocrinologie et des Maladies Métaboliques, Reference Center for Inherited Metabolic, Centre Hospitalier Universitaire de Lille, Lille, France., Filipsson K; Department of Endocrinology, Skane University Hospital, Lund, Sweden., Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Haverkamp JA; Department Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Langeveld M; Department Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lehman A; Adult Metabolic Diseases Clinic, Vancouver General Hospital, University of British Columbia, Vancouver, Canada., de Lonlay P; Reference Center for Inherited Metabolic MaMEA, Hôpital Necker-Enfants Malades, Paris, France., Lund AM; Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Oscarson M; Center of Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Peltenburg NC; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands., Ramadža DP; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Ramachandran R; Metabolic Medicine, Guy's and St Thomas' NHS Foundation Trust, London, UK., Reismann P; Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary., Shtylla A; Department of Endocrinology and Metabolism, Heidelberg University Hospital, Heidelberg, Germany., Tchan M; Department of Genetic Medicine, Westmead Hospital, Sydney, Australia., Tan CY; Adult Inherited Metabolic Disorder and Lysosomal Disorders Unit, Addenbrooke's Hospital, Cambridge, UK., Wilson C; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Woodall A; Adult Inherited Metabolic Diseases, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Wagenmakers MAEM; Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1239-1259. Date of Electronic Publication: 2023 Dec 09.
Autor:
Chanvanichtrakool M; Faculty of Medicine Siriraj Hospital, Division of Neurology, Department of Pediatrics, Mahidol University, Bangkok, Thailand; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Schreiber JM; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Chen WL; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Barber J; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia., Zhang A; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia., Ah Mew N; Division of Genetics & Metabolism, Children's National Hospital, Washington, District of Columbia., Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada; Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Canada., Wilkening G; Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, Colorado., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas., Gropman A; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia. Electronic address: agropman@childrensnational.org.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Oct; Vol. 159, pp. 48-55. Date of Electronic Publication: 2024 Jun 29.
Autor:
Zielonka M; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Matthias.Zielonka@med.uni-heidelberg.de., Kölker S; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Gleich F; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC, USA., Druck AC; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Ramdhouni N; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Göde L; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany., Posset R; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany. Electronic address: Roland.Posset@med.uni-heidelberg.de.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108566. Date of Electronic Publication: 2024 Aug 19.
Autor:
Summar M; George Washington University, Maryland, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1260-1268.
Autor:
Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1120-1128. Date of Electronic Publication: 2024 Jun 04.
Autor:
Caldovic L; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Ahn JJ; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Andricovic J; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Balick VM; Department of Biochemistry and Molecular Medicine, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Brayer M; Department of Biological Sciences, The George Washington University, Washington, DC, USA., Chansky PA; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Dawson T; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; AMPEL BioSolutions LLC, Charlottesville, Virginia, USA., Edwards AC; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Center for Neuroscience Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA., Felsen SE; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Center for Neuroscience Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA., Ismat K; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Jagannathan SV; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Mann BT; Department of Microbiology, Immunology, and Tropical Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Medina JA; The Institute for Biomedical Science, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Morizono T; College of Science and Engineering, University of Minnesota, Minneapolis, Minnesota, USA., Morizono M; College of Science and Engineering, University of Minnesota, Minneapolis, Minnesota, USA., Salameh S; Department of Pharmacology & Physiology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA.; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA., Vashist N; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA., Williams EC; Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; The George Washington University Cancer Center, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Zhou Z; Department of Civil and Environmental Engineering, The George Washington University, Washington, DC, USA., Morizono H; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1175-1193. Date of Electronic Publication: 2023 Nov 05.
Autor:
Makris G; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Veit L; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Klassa S; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Zürcher N; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland., Matsumoto S; Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan., Poms M; Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Nov; Vol. 47 (6), pp. 1228-1238. Date of Electronic Publication: 2024 Jan 08.
Autor:
Rizkallah D; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Daher RT; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Haddad L; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.
Publikováno v:
Metabolic brain disease [Metab Brain Dis] 2024 Jun; Vol. 39 (5), pp. 909-913. Date of Electronic Publication: 2024 Jun 04.