Zobrazeno 1 - 10
of 375
pro vyhledávání: '"KM Gibson"'
Autor:
KM Gibson, G Hoffmann, A Schwall, RL Broock, S Aramaki, L Sweetman, WL Nyhan, IK Brandt, RS Wappner, W Lehnert
Publikováno v:
Journal of Lipid Research, Vol 31, Iss 3, Pp 515-521 (1990)
3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase activity was measured in extracts of cultured fibroblasts derived from patients with mevalonate kinase deficiency (MKD). For six patients studied, the mean activity of 63.3 +/- 41.1 pmol/min-m
Externí odkaz:
https://doaj.org/article/d7953694a85b464f80c424499a3691e0
Publikováno v:
Developmental Medicine & Child Neurology; Aug2004, Vol. 46 Issue 8, p564-568, 5p
Autor:
Hou S; Department of Chemistry, Michigan Technological University, Houghton, Michigan 49931, United States., Yan X; Department of Chemistry, Michigan Technological University, Houghton, Michigan 49931, United States., Gao X; Department of Chemistry, Michigan Technological University, Houghton, Michigan 49931, United States., Jockusch S; Center of Photochemical Sciences, Bowling Green State University, Bowling Green, Ohio 43403, United States., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington 99202, United States., Shan Z; Department of Kinesiology and Integrative Physiology, Health Research Institute, Michigan Technological University, Houghton, Michigan 49931, United States.; Health Research Institute, Michigan Technological University, Houghton, Michigan 49931, United States., Bi L; Department of Chemistry, Michigan Technological University, Houghton, Michigan 49931, United States.; Health Research Institute, Michigan Technological University, Houghton, Michigan 49931, United States.
Publikováno v:
ACS omega [ACS Omega] 2024 Sep 13; Vol. 9 (38), pp. 39401-39418. Date of Electronic Publication: 2024 Sep 13 (Print Publication: 2024).
Autor:
Kwon G; Department of Pharmaceutical Sciences, Southern Illinois University Edwardsville, Edwardsville, IL 62026, USA., Gibson KM; Department of Pharmacotherapy, Washington State University, Pullman, WA 99164, USA., Bi L; Department of Chemistry, Michigan Technological University, Houghton, MI 49931, USA.
Publikováno v:
Antioxidants (Basel, Switzerland) [Antioxidants (Basel)] 2024 Aug 26; Vol. 13 (9). Date of Electronic Publication: 2024 Aug 26.
Autor:
Porter-Stransky KA; Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, 607 Grove Rd, Greenville, SC, 29673, USA. kp111@greenvillemed.sc.edu.; Department of Biomedical Sciences, Western Michigan University, Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA. kp111@greenvillemed.sc.edu., Horneffer-Ginter KJ; Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA., Bauler LD; Department of Biomedical Sciences, Western Michigan University, Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA., Gibson KM; Department of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA., Haymaker CM; Department of Medical Education, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA., Rothney M; Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA.
Publikováno v:
BMC medical education [BMC Med Educ] 2024 Jul 25; Vol. 24 (1), pp. 800. Date of Electronic Publication: 2024 Jul 25.
Autor:
Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Rajagopal A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Mackay LP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Martin KA; NeoGenomics Laboratories, Aliso Viejo, CA, United States., Pearl PL; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, United States., Wilson TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.; Baylor Genetics Laboratories, Houston, TX, United States., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.; Baylor Genetics Laboratories, Houston, TX, United States.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Jun 19; Vol. 15, pp. 1405468. Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).
Autor:
Monteiro MP; Department of Microbiology and Immunology, Emory University School of Medicine, 1510 Clifton Road, RRC 3070, Atlanta, GA 30322, United States., Kohl HM; Department of Biology, Eastern Washington University, 1175 Washington St. Science 226, Cheney, WA 99004, United States., Roullet JB; Department of Pharmacotherapy, Washington State University, 205 East Spokane Falls Boulevard, Spokane, WA 99202, United States., Gibson KM; Department of Pharmacotherapy, Washington State University, 205 East Spokane Falls Boulevard, Spokane, WA 99202, United States., Ochoa-Repáraz J; Department of Biological Sciences, Boise State University, 1910 University Drive, Boise, ID 83725, United States., Castillo AR; Department of Biology, Eastern Washington University, 1175 Washington St. Science 226, Cheney, WA 99004, United States.
Publikováno v:
Letters in applied microbiology [Lett Appl Microbiol] 2024 Jun 03; Vol. 77 (6).
Autor:
Peters TMA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., de Boer S; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Reintjes JTG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Broekman S; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., van Wijk E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain., Barić I; Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Merx J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, The Netherlands., Boltje TJ; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, The Netherlands., Martens J; Institute for Molecules and Materials, FELIX Laboratory, Radboud University, Nijmegen, The Netherlands., Willemsen MAAP; Department of Pediatric Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Verbeek MM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA., Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Haematology, Máxima Medical Center, Veldhoven, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 May; Vol. 47 (3), pp. 417-430. Date of Electronic Publication: 2023 Jul 29.
Autor:
Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; School of Medicine, Faculty of Medicine and Health Sciences, Tel-Aviv University, Tel Aviv, Israel. Electronic address: itay.tokatlylatzer@childrens.harvard.edu., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Italy. Electronic address: mita.bertoldi@univr.it., Blau N; Division of Metabolism, University Children's Hospital, Zürich, Switzerland; Children's Research Center, University Children's Hospital Zurich, Switzerland. Electronic address: Nenad.Blau@kispi.uzh.ch., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Melissa.DiBacco@childrens.harvard.edu., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Sarah.Elsea@bcm.edu., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: agarcia@sjdhospitalbarcelona.org., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA. Electronic address: mike.gibson@wsu.edu., Gropman AL; Division of Neurogenetics and Neurodevelopmental Disabilities, Children's National Hospital, Washington, D.C, USA. Electronic address: agropman@childrensnational.org., Hanson E; Human Neurobehavioral Core, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA. Electronic address: Ellen.Hanson@childrens.harvard.edu., Hoffman C; SSADH Association, Delafield, WI 53018, USA., Jeltsch K; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Kathrin.Jeltsch@med.uni-heidelberg.de., Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: nataliaalexandra.julia@sjd.es., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin, Ireland. Electronic address: ina.knerr@cuh.ie., Lee HHC; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: hingcheong.lee@childrens.harvard.edu., Malaspina P; Department of Biology, Tor Vergata University, Via della Ricerca Scientifica s.n.c., Rome 00133, Italy. Electronic address: patrizia.malaspina@uniroma2.it., McConnell A; SSADH Association, Delafield, WI 53018, USA. Electronic address: alice@speragen.com., Opladen T; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Thomas.Opladen@med.uni-heidelberg.de., Oppebøen M; Oslo University Hospital, Oslo, Norway. Electronic address: maropp@ous-hf.no., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: alexander.rotenberg@childrens.harvard.edu., Walterfang M; Neuropsychiatry, Royal Melbourne Hospital, Melbourne, Australia; Department of Psychiatry, University of Melbourne, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Health and Medical Sciences, Edith Cowan University, Perth, Australia. Electronic address: Mark.Walterfang@mh.org.au., Wang-Tso L; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan., Wevers RA; Translational Metabolic Laboratory, Department Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands. Electronic address: Ron.Wevers@radboudumc.nl., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA. Electronic address: j.roullet@wsu.edu., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Phillip.Pearl@childrens.harvard.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108363. Date of Electronic Publication: 2024 Mar 04.
Autor:
Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel Aviv, Israel., Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Afshar-Saber W; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Lee HHC; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., McGinty GE; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA., Tsuboyama M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Phillip.Pearl@childrens.harvard.edu.
Publikováno v:
Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Apr 24; Vol. 16 (1), pp. 21. Date of Electronic Publication: 2024 Apr 24.