Zobrazeno 1 - 10
of 4 116
pro vyhledávání: '"Glutaryl-CoA dehydrogenase"'
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.
Akademický článek
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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:
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:
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:
Bhatt DP; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA; Department of Cell Biology and Physiology, Washington University in St. Louis, St. Louis, Missouri, USA., Mills CA; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA., Anderson KA; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA; Sarah W. Stedman Nutrition and Metabolism Center, Duke University School of Medicine, Durham, North Carolina, USA; Departments of Medicine and Pharmacology & Cancer Biology, Duke University School of Medicine, Durham, North Carolina, USA., Henriques BJ; Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal; Departmento de Química e Bioquimica, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal., Lucas TG; Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal; Departmento de Química e Bioquimica, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal., Francisco S; Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal; Departmento de Química e Bioquimica, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal., Liu J; Departments of Medicine and Pharmacology & Cancer Biology, Duke University School of Medicine, Durham, North Carolina, USA., Ilkayeva OR; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA; Department of Medicine, Division of Endocrinology, Metabolism, and Nutrition, Duke University School of Medicine, Durham, North Carolina, USA., Adams AE; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA., Kulkarni SR; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA., Backos DS; Computational Chemistry and Biology Core Facility, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Major MB; Department of Cell Biology and Physiology, Washington University in St. Louis, St. Louis, Missouri, USA., Grimsrud PA; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA; Department of Medicine, Division of Endocrinology, Metabolism, and Nutrition, Duke University School of Medicine, Durham, North Carolina, USA., Gomes CM; Biosystems and Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal; Departmento de Química e Bioquimica, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal., Hirschey MD; Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina, USA; Sarah W. Stedman Nutrition and Metabolism Center, Duke University School of Medicine, Durham, North Carolina, USA; Departments of Medicine and Pharmacology & Cancer Biology, Duke University School of Medicine, Durham, North Carolina, USA; Department of Medicine, Division of Endocrinology, Metabolism, and Nutrition, Duke University School of Medicine, Durham, North Carolina, USA. Electronic address: matthew.hirschey@duke.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2022 Apr; Vol. 298 (4), pp. 101723. Date of Electronic Publication: 2022 Feb 12.
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:
Guerreiro G; Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035- 903, Porto Alegre, RS, Brazil. Electronic address: gilian_guerreiro@hotmail.com., Faverzani J; Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil; Programa de Pós-Graduação Em Ciências Farmacêuticas, UFRGS, Av. Ipiranga, 2752, 90610-000, Porto Alegre, RS, Brazil., Moura AP; Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035- 903, Porto Alegre, RS, Brazil., Volfart V; Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil., Gome Dos Reis B; Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil., Sitta A; Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035- 903, Porto Alegre, RS, Brazil., Gonzalez EA; Programa de Pós-Graduação Em Fisiologia, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil; Departamento de Microbiologia, Imunologia e Parasitologia, Instituto de Ciências Básicas da Saúde, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil., de Lima Rosa G; Programa de Pós-Graduação Em Fisiologia, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil; Departamento de Microbiologia, Imunologia e Parasitologia, Instituto de Ciências Básicas da Saúde, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil., Coitinho AS; Programa de Pós-Graduação Em Fisiologia, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil; Departamento de Microbiologia, Imunologia e Parasitologia, Instituto de Ciências Básicas da Saúde, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil., Baldo G; Programa de Pós-Graduação Em Fisiologia, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil; Departamento de Microbiologia, Imunologia e Parasitologia, Instituto de Ciências Básicas da Saúde, Universidade Federal Do Rio Grande Do Sul, Porto Alegre, RS, Brazil., Wajner M; Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035- 903, Porto Alegre, RS, Brazil; Programa de Pós-Graduação Em Ciências Biológicas: Bioquímica, UFRGS, Rua Ramiro Barcelos, 2600, 90035 000, Porto Alegre, RS, Brazil., Vargas CR; Faculdade de Farmácia, UFRGS, Av. Ipiranga 2752, 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, UFRGS, Rua Ramiro Barcelos, 2350, 90035- 903, Porto Alegre, RS, Brazil; Programa de Pós-Graduação Em Ciências Biológicas: Bioquímica, UFRGS, Rua Ramiro Barcelos, 2600, 90035 000, Porto Alegre, RS, Brazil; Programa de Pós-Graduação Em Ciências Farmacêuticas, UFRGS, Av. Ipiranga, 2752, 90610-000, Porto Alegre, RS, Brazil. Electronic address: crvargas@hcpa.edu.br.
Publikováno v:
Archives of biochemistry and biophysics [Arch Biochem Biophys] 2021 Sep 30; Vol. 709, pp. 108970. Date of Electronic Publication: 2021 Jun 26.
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.