Zobrazeno 1 - 10
of 5 360
pro vyhledávání: '"Brain Diseases, Metabolic"'
Autor:
Ding S; Yiwu Central Hospital Affiliated to Wenzhou Medical University, 699 Jiangdong Road, Yiwu City, 322000, Zhejiang Province, People's Republic of China., Yajun E; Yiwu Central Hospital Affiliated to Wenzhou Medical University, 699 Jiangdong Road, Yiwu City, 322000, Zhejiang Province, People's Republic of China., He Y; First Affiliated Hospital of Wenzhou Medical University, Nanbaixiang, Ouhai Direct, Wenzhou City, 325000, Zhejiang Province, People's Republic of China. heyucang0@163.com.
Publikováno v:
Acta neurologica Belgica [Acta Neurol Belg] 2024 Aug; Vol. 124 (4), pp. 1233-1236. Date of Electronic Publication: 2024 May 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:
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:
Wu R; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Khamrui S; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Dodatko T; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Leandro J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Sabovic A; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Violante S; The Donald B. and Catherine C. Marron Cancer Metabolism Center, Memorial Sloan Kettering Cancer Center, New York, New York 10021, United States., Cross JR; The Donald B. and Catherine C. Marron Cancer Metabolism Center, Memorial Sloan Kettering Cancer Center, New York, New York 10021, United States., Marsan E; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Kumar K; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., DeVita RJ; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Lazarus MB; Department of Pharmacological Sciences, Drug Discovery Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States., Houten SM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, United States.
Publikováno v:
ACS chemical biology [ACS Chem Biol] 2024 Jul 19; Vol. 19 (7), pp. 1544-1553. Date of Electronic Publication: 2024 Jun 24.
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:
Rattanapornsompong K; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Chetruengchai W; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Srichomthong C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Theerapanon T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Geriatric Dentistry and Special Patients Care Program, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63557. Date of Electronic Publication: 2024 Feb 02.
Autor:
Mabondzo A; Paris Saclay University, CEA, Medicines and Healthcare Technologies Department (MTS), SPI, Neurovascular Unit Research and Therapeutic Innovation Laboratory, 91191, Gif-sur-Yvette cedex, France. Aloise.mabondzo@cea.fr., van de Kamp J; Department of Human Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, Neurosciences and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Apr 17; Vol. 81 (1), pp. 186. Date of Electronic Publication: 2024 Apr 17.
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.