المؤلفون: 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.

المصدر: ACS chemical neuroscience [ACS Chem Neurosci] 2024 Mar 06; Vol. 15 (5), pp. 916-931. Date of Electronic Publication: 2024 Feb 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1948-7193 (Electronic) Linking ISSN: 19487193 NLM ISO Abbreviation: ACS Chem Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Uric Acid* , Urea Cycle Disorders, Inborn*/metabolism , Urea Cycle Disorders, Inborn*/pathology , Hyperammonemia*, Ornithine/*deficiency, Animals ; Caenorhabditis elegans ; Amyloid/metabolism ; Ornithine/metabolism ; Urea

SCR Disease Name: HHH syndrome

المؤلفون: 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.

مؤلفون مشاركون: Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108112. Date of Electronic Publication: 2023 Dec 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Liver Transplantation* , Urea Cycle Disorders, Inborn*/drug therapy , Urea Cycle Disorders, Inborn*/surgery, Male ; Humans ; Citrulline/therapeutic use ; Arginine/metabolism ; Pilot Projects ; Dietary Supplements ; Urea/metabolism

المؤلفون: Bilgin H; Department of Pediatrics, Division of Metabolism, Diyarbakir Children's Hospital, Diyarbakir, Turkey. huseyinbilginMD@gmail.com., Bilge S, Binici M, Tekes S

المصدر: European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2024 Mar; Vol. 28 (5), pp. 1873-1880.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Verduci Country of Publication: Italy NLM ID: 9717360 Publication Model: Print Cited Medium: Internet ISSN: 2284-0729 (Electronic) Linking ISSN: 11283602 NLM ISO Abbreviation: Eur Rev Med Pharmacol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Citrullinemia* , Hyperammonemia* , Urea Cycle Disorders, Inborn*, Ornithine/*deficiency, Child ; Humans ; Retrospective Studies ; Mitochondrial Membrane Transport Proteins/genetics ; Urea

SCR Disease Name: HHH syndrome

المؤلفون: 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.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jan; Vol. 47 (1), pp. 50-62. Date of Electronic Publication: 2023 Apr 18.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Ornithine Carbamoyltransferase Deficiency Disease*/genetics , Liver Transplantation* , Urea Cycle Disorders, Inborn*/genetics , Urea Cycle Disorders, Inborn*/therapy , Urea Cycle Disorders, Inborn*/complications, Humans ; Quality of Life ; Urea/metabolism ; Living Donors ; Genetic Therapy

المؤلفون: Sacchini M; Metabolic and Muscular Unit Disease, AOU-IRCCS Meyer Children Hospital, Florence, Italy. michele.sacchini@meyer.it., Procopio E, Pochiero F, Scaturro G, Daniotti M, Donati MA

المصدر: European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2023 Nov; Vol. 27 (22), pp. 11131-11142.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Verduci Country of Publication: Italy NLM ID: 9717360 Publication Model: Print Cited Medium: Internet ISSN: 2284-0729 (Electronic) Linking ISSN: 11283602 NLM ISO Abbreviation: Eur Rev Med Pharmacol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Quality of Life* , Urea Cycle Disorders, Inborn*/drug therapy , Urea Cycle Disorders, Inborn*/metabolism, Humans ; Glutamine/metabolism ; Ammonia/metabolism ; Ammonia/therapeutic use ; Urea/therapeutic use ; Urea/metabolism

المؤلفون: Chi G; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Dietz L; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK., Tang H; Department of Chemistry, University of Oxford, Oxford OX1 3TA, UK.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford OX1 3QU, UK., Snee M; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK., Scacioc A; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Wang D; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Mckinley G; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Mukhopadhyay SMM; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Pike ACW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Chalk R; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Burgess-Brown NA; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK., Timmermans JP; Laboratory of Cell Biology and Histology (CBH) at Antwerp Centre for Advanced Microscopy (ACAM), Department of Veterinary Sciences, University of Antwerp, Groenenborgerlaan 171, 2020 Antwerp, Belgium., van Putte W; Laboratory of Cell Biology and Histology (CBH) at Antwerp Centre for Advanced Microscopy (ACAM), Department of Veterinary Sciences, University of Antwerp, Groenenborgerlaan 171, 2020 Antwerp, Belgium.; PUXANO, Ottergemsesteenweg Zuid 713, 9000 Gent, Belgium., Robinson CV; Department of Chemistry, University of Oxford, Oxford OX1 3TA, UK.; Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford OX1 3QU, UK., Dürr KL; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford OX3 7DQ, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Nuffield Department of Medicine Research Building, Oxford OX3 7FZ, UK.

المصدر: Science advances [Sci Adv] 2023 Sep 29; Vol. 9 (39), pp. eadg8229. Date of Electronic Publication: 2023 Sep 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Transport Proteins*/metabolism , Urea*/pharmacology , Urea*/metabolism, Humans ; Binding Sites ; Urea Transporters

المؤلفون: Schnaubelt S; Department of Emergency Medicine, Medical University of Vienna, Vienna, Austria. Electronic address: sebastian.schnaubelt@muv.ac.at., Eibensteiner F; Department of Emergency Medicine, Medical University of Vienna, Vienna, Austria., Sulzgruber P; Division of Cardiology, Department of Internal Medicine II, Medical University of Vienna, Vienna, Austria.

المصدر: Heart, lung & circulation [Heart Lung Circ] 2024 Apr; Vol. 33 (4), pp. e31-e32.

نوع المنشور: Editorial; Letter

بيانات الدورية: Publisher: Elsevier Australia Country of Publication: Australia NLM ID: 100963739 Publication Model: Print Cited Medium: Internet ISSN: 1444-2892 (Electronic) Linking ISSN: 14439506 NLM ISO Abbreviation: Heart Lung Circ Subsets: MEDLINE

مواضيع طبية MeSH: Urea*/*analogs & derivatives, Shock, Septic*/drug therapy , Urea*/therapeutic use , Urea*/administration & dosage , Morpholines*/therapeutic use, Humans

المؤلفون: Xue K; Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China., Xing S; Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China. 1074158806@qq.com.

المصدر: Scientific reports [Sci Rep] 2023 Nov 13; Vol. 13 (1), pp. 19834. Date of Electronic Publication: 2023 Nov 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Urea* , Vascular Calcification*, Adult ; Humans ; United States ; Middle Aged ; Blood Urea Nitrogen ; Nutrition Surveys ; Cross-Sectional Studies ; Aorta, Abdominal ; Risk Factors

المؤلفون: Imbard A; Department of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université Paris-Saclay, Paris, France., Bouchereau J; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, G2M network, MetabERN, Paris, France., Arnoux JB; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, G2M network, MetabERN, Paris, France., Brassier A; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, G2M network, MetabERN, Paris, France., Schiff M; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, G2M network, MetabERN, Paris, France.; Université de Paris, Paris, France.; Inserm UMR _S1163, Institut Imagine, Paris, France., Bérat CM; Department of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université de Paris, Paris, France., Pontoizeau C; Department of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université de Paris, Paris, France., Benoist JF; Department of Biochemistry, Assistance Publique-Hôpitaux de Paris, Paris, France.; Université Paris-Saclay, Paris, France., Josse C; eXYSTAT, Malakoff, 92240, France., Montestruc F; eXYSTAT, Malakoff, 92240, France., de Lonlay P; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, G2M network, MetabERN, Paris, France. pascale.delonlay@aphp.fr.; Université de Paris, Paris, France. pascale.delonlay@aphp.fr.; Inserm UMR S1151, Institut Necker-Enfants Malades (INEM), Paris, France. pascale.delonlay@aphp.fr.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 21; Vol. 18 (1), pp. 207. Date of Electronic Publication: 2023 Jul 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Urea Cycle Disorders, Inborn*/drug therapy , Drug-Related Side Effects and Adverse Reactions*, Humans ; Citrulline/therapeutic use ; Ammonia ; Retrospective Studies ; Arginine/therapeutic use ; Urea/therapeutic use

المؤلفون: Xu Y; State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100191, China., Wang S; State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100191, China., Ma W; State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing 100191, China., Li J; State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing 100191, China., Lu Y; State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing 100191, China., Abulizi A; State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100191, China., Sun J; Key Lab of Drug Metabolism and Pharmacokinetics, State Key Laboratory of Natural Medicines, China Pharmaceutical University, Nanjing 210009, China., Yang B; State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100191, China.

المصدر: Journal of chromatographic science [J Chromatogr Sci] 2023 Jul 09; Vol. 61 (6), pp. 552-558.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0173225 Publication Model: Print Cited Medium: Internet ISSN: 1945-239X (Electronic) Linking ISSN: 00219665 NLM ISO Abbreviation: J Chromatogr Sci Subsets: MEDLINE

مواضيع طبية MeSH: Tandem Mass Spectrometry*/methods , Urea*, Rats ; Animals ; Chromatography, High Pressure Liquid/methods ; Rats, Sprague-Dawley ; Reproducibility of Results ; Urea Transporters