Zobrazeno 1 - 10
of 7 453
pro vyhledávání: '"urea cycle"'
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:
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.
Autor:
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, Heidelberg, Germany. Electronic address: roland.posset@med.uni-heidelberg.de., 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, 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, Heidelberg, Germany., Scharre 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, Heidelberg, Germany., Okun JG; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Gropman AL; Children's National Health System and The George Washington School of Medicine, Washington, DC., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX., 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, Heidelberg, Germany., Epp 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, 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, Heidelberg, Germany., 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, Heidelberg, Germany., 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, Heidelberg, Germany. Electronic address: matthias.zielonka@med.uni-heidelberg.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101039. Date of Electronic Publication: 2023 Dec 03.
Autor:
Patel M; School of Science, Indrashil University, Kadi, Mehsana, Gujarat, 382740, India., Jaiswal A; Department of Chemistry, Indian Institute of Technology Kanpur, Kanpur, Uttar Pradesh 208016, India., Naseer A; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.; Division of Toxicology & Experimental Medicine, CSIR-Central Drug Research Institute, Lucknow 226031, India., Tripathi A; Department of Chemistry, School of Natural Sciences, Shiv Nadar Institution of Eminence, Gautam Buddha Nagar, Uttar Pradesh 201314, India., Joshi A; Department of Chemistry, Pandit Deendayal Petroleum University, Gandhinagar, Gujarat 382009, India., Minocha T; Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi 221005, India., Kautu A; Department of Chemistry, Dr. Hari Singh Gour University, Sagar, Madhya Pradesh 470003, India., Gupta S; School of Science, Indrashil University, Kadi, Mehsana, Gujarat, 382740, India., Joshi KB; Department of Chemistry, Dr. Hari Singh Gour University, Sagar, Madhya Pradesh 470003, India., Pandey MK; Department of Chemistry, Pandit Deendayal Petroleum University, Gandhinagar, Gujarat 382009, India., Kumar R; Department of Biosciences, School of Science, Indrashil University, Kadi, Mehsana, Gujarat 382740, India., Dubey KD; Department of Chemistry, School of Natural Sciences, Shiv Nadar Institution of Eminence, Gautam Buddha Nagar, Uttar Pradesh 201314, India., Nazir A; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.; Division of Toxicology & Experimental Medicine, CSIR-Central Drug Research Institute, Lucknow 226031, India., Verma S; Gangwal School of Medical Sciences and Technology, Indian Institute of Technology Kanpur, Kanpur, 208016, India., Gour N; School of Science, Indrashil University, Kadi, Mehsana, Gujarat, 382740, India.
Publikováno v:
ACS chemical neuroscience [ACS Chem Neurosci] 2024 Mar 06; Vol. 15 (5), pp. 916-931. Date of Electronic Publication: 2024 Feb 18.
Autor:
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., 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., Epp 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., 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., 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., 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., 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., 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.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108112. Date of Electronic Publication: 2023 Dec 10.
Autor:
Singh RH; Emory University School of Medicine, 101 Woodruff Circle, 7th Floor Suite 7130, 30322, Atlanta, GA, USA. rsingh@emory.edu., Bourdages MH; Children's University Hospital of Quebec, Quebec, QC, Canada., Kurtz A; Mount Sinai, New York, NY, USA., MacLoed E; Children's National Medical Center, Washington, DC, USA., Norman C; University of Utah, Salt Lake City, UT, USA., Ratko S; London Health Sciences Centre, London, ON, Canada., van Calcar SC; Oregon Health & Science University, Portland, OR, USA., Kenneson A; Emory University School of Medicine, 101 Woodruff Circle, 7th Floor Suite 7130, 30322, Atlanta, GA, USA.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 18; Vol. 19 (1), pp. 168. Date of Electronic Publication: 2024 Apr 18.
Autor:
Long MT; Departments of Anesthesiology & Internal Medicine, University of Wisconsin Hospitals and Clinics., Kruser JM; Department of Medicine, University of Wisconsin Hospitals and Clinics, Madison, Wisconsin., Quinonez SC; Departments of Pediatrics and Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Publikováno v:
Current opinion in clinical nutrition and metabolic care [Curr Opin Clin Nutr Metab Care] 2024 Mar 01; Vol. 27 (2), pp. 184-191. Date of Electronic Publication: 2023 Nov 06.
Autor:
Duff C; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London, UK., Alexander IE; Gene Therapy Research Unit, Children's Medical Research Institute, Faculty of Medicine and Health, The University of Sydney and Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney, Westmead, New South Wales, Australia., Baruteau J; Genetics and Genomic Medicine Department, Great Ormond Street Institute of Child Health, University College London, London, UK.; National Institute of Health Research Great Ormond Street Biomedical Research Centre, London, UK.; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jan; Vol. 47 (1), pp. 50-62. Date of Electronic Publication: 2023 Apr 18.
Autor:
Shamsian BS; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Momtazmanesh N; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Saneifard H; Pediatric Endocrinology and Metabolism Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Tabatabaei SMTH; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jafari M; Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran., Pour ZK; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Al-Hussieni KJMR; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jamee M; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kamfar S; Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Publikováno v:
Pediatric transplantation [Pediatr Transplant] 2024 May; Vol. 28 (3), pp. e14689.