Zobrazeno 1 - 10
of 1 169
pro vyhledávání: '"Glutaryl-CoA dehydrogenase"'
Autor:
Barroso M; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Puchwein-Schwepcke A; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich 80337, Germany.; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel, UKBB, Basel 4031, Switzerland., Buettner L; Pharmaceutical Development Biologicals, Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss 88397, Germany., Goebel I; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Küchler K; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Muntau AC; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Delgado A; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona 08028, Spain., Garcia-Collazo AM; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona 08028, Spain., Martinell M; Minoryx Therapeutics S.L., Tecno Campus Mataró-Maresme, Mataró, Barcelona 08302, Spain., Barril X; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona 08028, Spain., Cubero E; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona 08028, Spain., Gersting SW; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Publikováno v:
Journal of medicinal chemistry [J Med Chem] 2024 Oct 10; Vol. 67 (19), pp. 17087-17100. Date of Electronic Publication: 2024 Sep 23.
Autor:
Schuurmans IME; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands., van Karnebeek CDM; Emma Center for Personalized Medicine, Departments of Pediatrics and Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands., Hoogendoorn ADM; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands., Ribes A; Section of Inborn Errors of Metabolism-IBC. Department of Biochemistry and Molecular Genetics. Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain., Nadif Kasri N; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, the Netherlands., Garanto A; Radboud university medical center, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, the Netherlands; Radboud university medical center, Department of Human Genetics, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103481. Date of Electronic Publication: 2024 Jun 19.
Autor:
Duan J; From the Department of Pediatrics, The First Affiliated Hospital of Anhui Medical University, China.
Publikováno v:
Neurology [Neurology] 2024 Oct 22; Vol. 103 (8), pp. e209878. Date of Electronic Publication: 2024 Sep 16.
Autor:
Isasi E; Laboratorio de Neurobiología Celular y Molecular, Unidad Académica de Histología y Embriología, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.; Departamento de Neurobiología y Neuropatología, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay., Wajner M; Department of Biochemistry, Instituto de Ciencias Básicas da Saude, Universidade Federal de Río Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Duarte JA; Departamento de Medicina Interna, Serviço de Radiología, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Olivera-Bravo S; Departamento de Neurobiología y Neuropatología, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay. solivera@iibce.edu.uy.
Publikováno v:
Neurotoxicity research [Neurotox Res] 2024 Jul 04; Vol. 42 (4), pp. 33. Date of Electronic Publication: 2024 Jul 04.
Autor:
Bilal M; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Jafri L; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Majid H; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Khan AH; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan., Ahmed S; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan.
Publikováno v:
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2024 Jun; Vol. 34 (6), pp. 646-649.
Autor:
Elola Pastor AI; Centro de Salud Mieres-Sur, Mieres. Asturias, Spain. Electronic address: anaisabel.elola@sespa.es., Prieto García B; Unidad de Bioquímica Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Díaz Martín JJ; Sección de Gastroenterología y Nutrición Pediátrica, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Asturias, Spain.
Publikováno v:
Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 318-324. Date of Electronic Publication: 2024 May 06.
Autor:
Sabi EM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., AlMogren M; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia., Sebaa R; Department of Medical Laboratories, College of Applied Medical Sciences, Shaqra University, Shaqra 11961, Saudi Arabia., Sumaily KM; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., AlMalki R; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia., Mujamammi AH; Clinical Biochemistry Unit, Pathology Department, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia., Abdel Rahman AM; Metabolomics Section, Department of Clinical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh 11211, KSA, Saudi Arabia; The Department of Biochemistry and Molecular Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: aabdelraman46@kfshrc.edu.sa.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Apr 15; Vol. 557, pp. 117861. Date of Electronic Publication: 2024 Mar 13.
Autor:
Chauvet E; Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Ribeiro D; Pediatric Radiology Unit, Radiology Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Kern I; Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland., Fluss J; Pediatric Neurology Unit, Pediatric Subspecialties Service, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 217-219. Date of Electronic Publication: 2024 Feb 07.
Autor:
Barroso M; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gertzen M; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Psychiatry and Psychotherapy, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Puchwein-Schwepcke AF; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital, 4056 Basel, Switzerland., Preisler H; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Sturm A; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Reiss DD; Department of Molecular Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany.; Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, 81377 Munich, Germany., Danecka MK; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Muntau AC; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gersting SW; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 24; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 24.
Autor:
Barzi M; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Johnson CG; Center for Cell and Gene Therapy, Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, TX 77030, USA., Chen T; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Rodriguiz RM; Department of Psychiatry and Behavioral Sciences, Cell Biology and Neurobiology, Mouse Behavioral and Neuroendocrine Analysis Core Facility, Duke University Medical Center, Durham, NC 27710, USA., Hemmingsen M; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Gonzalez TJ; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Rosales A; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Beasley J; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Peck CK; Biochemical Genetics Laboratory, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Ma Y; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Stiles AR; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Wood TC; Biochemical Genetics Laboratory, Children's Hospital Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Maeso-Diaz R; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA., Diehl AM; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA., Young SP; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Everitt JI; Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA., Wetsel WC; Department of Psychiatry and Behavioral Sciences, Cell Biology and Neurobiology, Mouse Behavioral and Neuroendocrine Analysis Core Facility, Duke University Medical Center, Durham, NC 27710, USA., Lagor WR; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX 77030, USA., Bissig-Choisat B; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Asokan A; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.; Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA.; Department of Biomedical Engineering (BME) at the Duke University Pratt School of Engineering, Duke University Medical Center, Durham, NC 27710, USA.; Duke Cancer Center, Duke University Medical Center, Durham, NC 27710, USA., El-Gharbawy A; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Bissig KD; Y.T. and Alice Chen Center for Genetics and Genomics, Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Department of Medicine, Division of Gastroenterology, Duke University Medical Center, Durham, NC 27710, USA.; Department of Biomedical Engineering (BME) at the Duke University Pratt School of Engineering, Duke University Medical Center, Durham, NC 27710, USA.; Duke Cancer Center, Duke University Medical Center, Durham, NC 27710, USA.; Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA.
Publikováno v:
Science translational medicine [Sci Transl Med] 2023 Apr 19; Vol. 15 (692), pp. eadf4086. Date of Electronic Publication: 2023 Apr 19.