Zobrazeno 1 - 10
of 49 852
pro vyhledávání: '"ornithine"'
Autor:
Yuan G; The Graduate School of Fujian Medical University, Fuzhou, China.; Department of Endocrinology, Quanzhou Maternity and Children's Hospital, Quanzhou, China., Liu Z; The Graduate School of Fujian Medical University, Fuzhou, China.; Department of Neonatology, Quanzhou Maternity and Children's Hospital, Quanzhou, China., Chen Z; Department of Intensive Care Medicine, Quanzhou Maternity and Children's Hospital, Quanzhou, China., Zhang X; Department of Endocrinology, Quanzhou Maternity and Children's Hospital, Quanzhou, China., Zhang W; The Graduate School of Fujian Medical University, Fuzhou, China.; Department of Neonatology, Quanzhou Maternity and Children's Hospital, Quanzhou, China., Chen D; The Graduate School of Fujian Medical University, Fuzhou, China. chendm9090@163.com.; Department of Neonatology, Quanzhou Maternity and Children's Hospital, Quanzhou, China. chendm9090@163.com.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2024 Sep 11; Vol. 50 (1), pp. 171. Date of Electronic Publication: 2024 Sep 11.
Autor:
Balfoort BM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Ruiter JPN; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Timmer C; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., van Karnebeek CD; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam, University of Amsterdam, Amsterdam, the Netherlands; United for Metabolic Diseases, the Netherlands. Electronic address: s.ferdinandusse@amsterdamumc.nl.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108542. Date of Electronic Publication: 2024 Jul 19.
Autor:
Zhang Q; Medical Genetics Center, Gansu Provincial Maternal and Child Health Care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu 730050, China. 45251377@qq.com., Hao S, Hui L, Zheng L, Wang X, Feng X, Liu F, Chen X, Zhou B, Wang Y, Zhang C
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Mar 10; Vol. 41 (3), pp. 306-311.
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:
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:
Pizzuto M; Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB-Arrixaca), 30120 Murcia, Spain; Structure and Function of Biological Membranes Laboratory, Université Libre de Bruxelles, 1050 Brussels, Belgium; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4067, Australia. Electronic address: m.pizzuto@uq.edu.au., Hurtado-Navarro L; Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB-Arrixaca), 30120 Murcia, Spain., Molina-Lopez C; Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB-Arrixaca), 30120 Murcia, Spain., Soubhye J; Department of Pharmacognosy, Bioanalysis and Drug Discovery, Faculty of Pharmacy, Université Libre De Bruxelles, 1050 Brussels, Belgium., Gelbcke M; Department of Pharmacognosy, Bioanalysis and Drug Discovery, Faculty of Pharmacy, Université Libre De Bruxelles, 1050 Brussels, Belgium., Rodriguez-Lopez S; Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB-Arrixaca), 30120 Murcia, Spain., Ruysschaert JM; Structure and Function of Biological Membranes Laboratory, Université Libre de Bruxelles, 1050 Brussels, Belgium., Schroder K; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4067, Australia., Pelegrin P; Molecular Inflammation Group, Biomedical Research Institute of Murcia (IMIB-Arrixaca), 30120 Murcia, Spain; Department of Biochemistry and Molecular Biology B and Immunology, Faculty of Medicine, University of Murcia, 30120 Murcia, Spain.
Publikováno v:
Cell reports [Cell Rep] 2024 Oct 22; Vol. 43 (10), pp. 114788. Date of Electronic Publication: 2024 Sep 26.
Autor:
Afrin A; College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Afshan TS; Pediatric Residency Program, Spectrum Health/Michigan State University/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA., VanSickle EA; Division of Medical Genetics and Genomics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA., Michael J; Division of Medical Genetics and Genomics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA., Laarman RL; Division of Medical Subspecialties, Section of Dermatology, Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA., Bupp CP; College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.; Division of Medical Genetics and Genomics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2023 May-Jun; Vol. 40 (3), pp. 528-531. Date of Electronic Publication: 2022 Nov 28.
Autor:
Wang TA; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Chen PL; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Chen YS; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Chiu YW; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Lin ZJ; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Kao CY; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C., Hung HM; Department of Chemistry & Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei, 10617, Taiwan (R.O.C.
Publikováno v:
Chembiochem : a European journal of chemical biology [Chembiochem] 2024 Sep 16; Vol. 25 (18), pp. e202400480. Date of Electronic Publication: 2024 Aug 22.
Autor:
Núñez-Sánchez MÁ; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain., Martínez-Sánchez MA; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain., Sierra-Cruz M; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Illinois, Chicago, IL, USA., Lambertos A; Department of Biochemistry and Molecular Biology B and Immunology, Faculty of Medicine, University of Murcia, Murcia, Spain., Rico-Chazarra S; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain., Oliva-Bolarín A; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain., Balaguer-Román A; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.; Department of General and Digestive System Surgery, Virgen de la Arrixaca University Hospital, Murcia, Spain., Yuste JE; Metabolomics Platform of CEBAS-CSIC, Campus Universitario de Espinardo, Murcia, Spain., Martínez CM; Experimental Pathology Platform, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain., Mika A; Department of Pharmaceutical Biochemistry, Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland., Frutos MD; Department of General and Digestive System Surgery, Virgen de la Arrixaca University Hospital, Murcia, Spain., Llamoza-Torres CJ; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.; Division of Liver Diseases, Department of Gastroenterology and Hepatology, University Clinical Hospital Virgen de la Arrixaca, Murcia, Spain., Córdoba-Chacón J; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, University of Illinois, Chicago, IL, USA., Ramos-Molina B; Obesity, Diabetes and Metabolism Laboratory, Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.
Publikováno v:
The Journal of pathology [J Pathol] 2024 Sep; Vol. 264 (1), pp. 101-111. Date of Electronic Publication: 2024 Jul 18.
Autor:
Lee MS; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dennis C; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Naqvi I; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dailey L; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lorzadeh A; Department of Stem Cell Biology and Regenerative Medicine, Broad-CIRM Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Ye G; Department of Stem Cell Biology and Regenerative Medicine, Broad-CIRM Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Zaytouni T; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Adler A; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hitchcock DS; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lin L; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA., Hoffman MT; Department of Cancer Immunology and Virology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Immunology, Harvard Medical School, Boston, MA, USA., Bhuiyan AM; Department of Cancer Immunology and Virology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Immunology, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Barth JL; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA., Machacek ME; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA., Mino-Kenudson M; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA., Dougan SK; Department of Cancer Immunology and Virology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Immunology, Harvard Medical School, Boston, MA, USA., Jadhav U; Department of Stem Cell Biology and Regenerative Medicine, Broad-CIRM Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA., Clish CB; Metabolomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kalaany NY; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA. nada.kalaany@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. nada.kalaany@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. nada.kalaany@childrens.harvard.edu.
Publikováno v:
Nature [Nature] 2023 Apr; Vol. 616 (7956), pp. 339-347. Date of Electronic Publication: 2023 Mar 29.