Zobrazeno 1 - 10
of 6 747
pro vyhledávání: '"Ornithine Carbamoyltransferase"'
Autor:
Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. barbara.siri@unito.it.; Department of Paediatrics, Città della Salute e della Scienza, OIRM, University of Turin, Turin, Italy. barbara.siri@unito.it., Olivieri G; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Poms M; Division of Clinical Chemistry and Biochemistry and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Goffredo BM; Division of Metabolism and Metabolic Diseases Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Commone A; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 02; Vol. 19 (1), pp. 3. Date of Electronic Publication: 2024 Jan 02.
Autor:
Aldrian D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Waldner B; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., El-Gharbawy AH; Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., McKiernan P; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Vockley J; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Landau YE; Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City MNG-HA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia., Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, Greater Manchester, UK., Kwok AM; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Honzik T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Kelifova S; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, Australia., Lund AM; Departments of Clinical Genetics and Pediatrics, Center for Inherited Metabolic Diseases, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Mori M; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Scholl-Bürgi S; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Zöggeler T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Oberhuber R; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Schneeberger S; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Karall D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 220-229. Date of Electronic Publication: 2024 Feb 20.
Autor:
Zhou Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China., Jiang X; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China., Zhang Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China., Zhang Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China., Sun F; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China. 99609248@qq.com., Ma Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China. mayanlinma@hotmail.com.
Publikováno v:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Jul 22; Vol. 24 (1), pp. 491. Date of Electronic Publication: 2024 Jul 22.
Autor:
Watson SS; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Micheloni E; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Ngu L; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Barnsley KK; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Makowski L; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States.; Department of Bioengineering, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Beuning PJ; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States.; Department of Bioengineering, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States., Ondrechen MJ; Department of Chemistry and Chemical Biology, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States.; Department of Bioengineering, Northeastern University, 360 Huntington Avenue, Boston, Massachusetts 02115, United States.
Publikováno v:
Biochemistry [Biochemistry] 2024 Jul 16; Vol. 63 (14), pp. 1858-1875. Date of Electronic Publication: 2024 Jun 28.
Autor:
Alves Silva JC; Department of Chemistry, Federal University of Paraíba, Cid. Universitária, João Pessoa, 58051-900, Paraíba, Brazil., Barden Grillo I; Department of Chemistry, Federal University of Paraíba, Cid. Universitária, João Pessoa, 58051-900, Paraíba, Brazil., A Urquiza-Carvalho G; Department of Chemistry, Federal University of Pernambuco, Cid. Universitária, Recife, 50670-901, Pernambuco, Brazil., Bruno Rocha G; Department of Chemistry, Federal University of Paraíba, Cid. Universitária, João Pessoa, 58051-900, Paraíba, Brazil. gbr@quimica.ufpb.br.
Publikováno v:
Journal of molecular modeling [J Mol Model] 2024 Jul 15; Vol. 30 (8), pp. 265. Date of Electronic Publication: 2024 Jul 15.
Autor:
Belanger AJ; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Gefteas E; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Przybylska M; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Geller S; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Anarat-Cappillino G; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Kloss A; Rare & Neurologic Diseases, Sanofi, Cambridge, USA., Yew NS; Rare & Neurologic Diseases, Sanofi, Cambridge, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jan; Vol. 46 (1), pp. 55-65. Date of Electronic Publication: 2022 Oct 27.
Autor:
Yamamoto S; Department of General Medicine, Saga University Hospital, Saga, Japan.; Department of General Medicine, Yuai-Kai Foundation & Oda Hospital, Saga, Japan., Yamashita S; Department of General Medicine, Saga University Hospital, Saga, Japan., Kakiuchi T; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan., Kurogi K; Department of General Medicine, Saga University Hospital, Saga, Japan.; Department of General Medicine, National Hospital Organization Ureshino Medical Center, Saga, Japan., Nishi TM; Department of General Medicine, Saga University Hospital, Saga, Japan., Tago M; Department of General Medicine, Saga University Hospital, Saga, Japan., Yamashita SI; Department of General Medicine, Saga University Hospital, Saga, Japan.
Publikováno v:
The American journal of case reports [Am J Case Rep] 2022 Nov 15; Vol. 23, pp. e937658. Date of Electronic Publication: 2022 Nov 15.
Autor:
Iijima H; Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan. Electronic address: iijima-hi@ncchd.go.jp., Kubota M; Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Nov; Vol. 137 (3), pp. 301-307. Date of Electronic Publication: 2022 Oct 12.
Autor:
Yang F; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Wang LR, Li X, Hu JY; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Ying LW, Feng BY, Li YY; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Lin KN; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., She JX; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Li H; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Chang GY; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China., Wang XM; Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2024 May 15; Vol. 26 (5), pp. 512-517.
Autor:
McCormick BJ; Internal Medicine, Mayo Clinic in Florida, Jacksonville, Florida, USA mccormick.benjamin@mayo.edu., Ritchie LV; Nephrology, Mayo Clinic in Florida, Jacksonville, Florida, USA., Porter IE; Nephrology, Mayo Clinic in Florida, Jacksonville, Florida, USA.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 May 02; Vol. 17 (5). Date of Electronic Publication: 2024 May 02.