Zobrazeno 1 - 10
of 17 731
pro vyhledávání: '"Acyl-CoA"'
Autor:
Narayanan B; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA., Xia C; Department of Chemistry and Biochemistry, College of Arts and Sciences, University of North Florida, Jacksonville, FL, 32224, USA., McAndrew R; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.; Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, CA, 94740, USA., Shen AL; McArdle Laboratory for Cancer Research, Department of Oncology, University of Wisconsin-Madison, Madison, WI, 53706, USA., Kim JP; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. jjkim@mcw.edu.
Publikováno v:
Scientific reports [Sci Rep] 2024 Jun 05; Vol. 14 (1), pp. 12976. Date of Electronic Publication: 2024 Jun 05.
Autor:
Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Basu S; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Zhao XJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., D'Annibale O; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA., Van't Land C; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA., Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA. Electronic address: aam27@pitt.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107689. Date of Electronic Publication: 2023 Aug 25.
Autor:
Zhao XJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15261, USA., Mihalik S; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Solo K; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Basu S; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Aliu E; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Shi H; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Kochersberger C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Van't Land C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Coughlan KA; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Siddiqui S; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Rice LM; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Hillier S; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Guadagnin E; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., DeAntonis C; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Giangrande PH; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Martini PGV; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2347-2356.
Autor:
Everard E; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: emilie.everard@saintluc.uclouvain.be., Laeremans H; Centre de Dépistage Néonatal de l'ULB, Brussels, Belgium. Electronic address: h.laeremans@lifelines.nl., Boemer F; Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liège, Belgium. Electronic address: f.boemer@chuliege.be., Marie S; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: sandrine.marie@saintlucuclouvain.be., Vincent MF; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: marie-francoise.vincent@saintlucuclouvain.be., Dewulf JP; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: joseph.dewulf@saintluc.uclouvain.be., Debray FG; Department of Medical Genetics, CHU Sart-Tilman, Liège, Belgium. Electronic address: fg.debray@chuliege.be., De Laet C; Nutrition and Metabolism Unit, Department of Pediatrics, University Children's Hospital Queen Fabiola, Brussels, Belgium. Electronic address: corinne.delaet@huderf.be., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Mar; Vol. 49, pp. 60-65. Date of Electronic Publication: 2024 Feb 07.
Autor:
Guerra IMS; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Ferreira HB; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Maurício T; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Pinho M; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Diogo L; Reference Center for Hereditary Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; European Reference Network for Hereditary Metabolic Diseases - MetabERN, Portugal., Moreira S; Reference Center for Hereditary Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; European Reference Network for Hereditary Metabolic Diseases - MetabERN, Portugal., Goracci L; Department of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy., Bonciarelli S; Department of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy., Melo T; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Domingues P; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Domingues MR; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal., Moreira ASP; Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.; CESAM- Centre for Environmental and Marine Studies-, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 731-745. Date of Electronic Publication: 2024 Feb 14.
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Autor:
Krebs-Drouot L; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11 Rue Humann, Strasbourg 67000, France. Electronic address: lkrebsdrouot@chu-grenoble.fr., Schalk A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keyser C; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11 Rue Humann, Strasbourg 67000, France; Université de Paris, BABEL, CNRS, Paris 75012, France., Gonzalez A; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11 Rue Humann, Strasbourg 67000, France; Université de Paris, BABEL, CNRS, Paris 75012, France., Calmels N; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale D'Alsace, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France., Wardé MA; Service de Pédiatrie Spécialisée et Générale, Unité de Neurologie Pédiatrique, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Oertel L; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11 Rue Humann, Strasbourg 67000, France., Acquaviva CÉ; Service de Biochimie et Biologie Moléculaire-UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, CHU Lyon, France., Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg, Illkirch, France., Farrugia A; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11 Rue Humann, Strasbourg 67000, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg, Illkirch, France.
Publikováno v:
Forensic science international. Genetics [Forensic Sci Int Genet] 2024 Jul; Vol. 71, pp. 103028. Date of Electronic Publication: 2024 Mar 02.
Autor:
Wang C; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Qiao S; NHC and CAMS Key Laboratory of Molecular Probe and Targeted Theranostics, Harbin Medical University, 150081, Harbin, China., Zhao Y; Space Environment Simulation Research Infrastructure, Harbin Institute of Technology, 150080, Harbin, China., Tian H; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Yan W; Department of Cardiology, The First Affiliated Hospital of Harbin Medical University, 150081, Harbin, China., Hou X; Department of Cardiology, The Fourth Affiliated Hospital of Harbin Medical University, 150081, Harbin, China., Wang R; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Zhang B; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Yang C; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Zhu F; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Jiao Y; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Jin J; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Chen Y; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China., Tian W; School of Life Science and Technology, Harbin Institute of Technology, 150080, Harbin, China. tianweiming@hit.edu.cn.
Publikováno v:
Nature communications [Nat Commun] 2023 Feb 21; Vol. 14 (1), pp. 959. Date of Electronic Publication: 2023 Feb 21.
Autor:
Lu D; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., He A; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA.; School of Life Sciences, Anhui Medical University, Hefei, 230032, China., Tan M; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Mrad M; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., El Daibani A; Center for Clinical Pharmacology, Department of Anesthesiology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Hu D; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Liu X; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Kleiboeker B; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Che T; Center for Clinical Pharmacology, Department of Anesthesiology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Hsu FF; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Bambouskova M; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA., Semenkovich CF; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Cell Biology and Physiology; Washington University School of Medicine, St. Louis, MO, 63110, USA., Lodhi IJ; Division of Endocrinology, Metabolism & Lipid Research, Washington University School of Medicine, St. Louis, MO, 63110, USA. ilodhi@wustl.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 May 17; Vol. 15 (1), pp. 4214. Date of Electronic Publication: 2024 May 17.
Autor:
Maruyama T; Laboratory of Nutrition Chemistry, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto, Japan., Matsui S; Laboratory of Nutrition Chemistry, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto, Japan., Kobayashi R; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Horii T; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan., Oguri Y; Laboratory of Nutrition Chemistry, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto, Japan., Tsuzuki S; Laboratory of Nutrition Chemistry, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto, Japan., Horie T; Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Ono K; Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Hatada I; Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Viral Vector Core, Gunma University Initiative for Advanced Research, Maebashi, Japan., Sasaki T; Laboratory of Nutrition Chemistry, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto, Japan.
Publikováno v:
American journal of physiology. Endocrinology and metabolism [Am J Physiol Endocrinol Metab] 2024 May 01; Vol. 326 (5), pp. E735-E746. Date of Electronic Publication: 2024 Apr 10.
Autor:
Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com., Siddiqa A; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.
Publikováno v:
Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 521. Date of Electronic Publication: 2023 Dec 29.