Zobrazeno 1 - 10
of 34 754
pro vyhledávání: '"amino acid metabolism"'
Autor:
Meine BM; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., de Mello JE; Laboratório de Neuroquímica, Inflamação e Câncer, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., Custódio SV; Laboratório de Neuroquímica, Inflamação e Câncer, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., da Silveira LM; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., Simões WS; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., Bona NP; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., Garcia DN; Faculdade de Nutrição, Universidade Federal de Pelotas, Pelotas, RS, Brazil., Schneider A; Faculdade de Nutrição, Universidade Federal de Pelotas, Pelotas, RS, Brazil., de Souza LP; Laboratório de Genômica Estrutural, Programa de Pós-Graduação em Biotecnologia, Centro de Desenvolvimento Tecnológico, Universidade Federal de Pelotas, Pelotas, RS, Brazil., Domingues WB; Laboratório de Genômica Estrutural, Programa de Pós-Graduação em Biotecnologia, Centro de Desenvolvimento Tecnológico, Universidade Federal de Pelotas, Pelotas, RS, Brazil., Campos VF; Laboratório de Genômica Estrutural, Programa de Pós-Graduação em Biotecnologia, Centro de Desenvolvimento Tecnológico, Universidade Federal de Pelotas, Pelotas, RS, Brazil., Spanevello RM; Laboratório de Neuroquímica, Inflamação e Câncer, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil., de Aguiar MSS; Laboratório de Neuroquímica, Inflamação e Câncer, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil. Electronic address: mspereirasoares@gmail.com., Stefanello FM; Laboratório de Biomarcadores, Programa de Pós-Graduação em Bioquímica e Bioprospecção, Centro de Ciências Químicas, Farmacêuticas e de Alimentos, Universidade Federal de Pelotas, Campus Universitário S/N, Pelotas, RS, Brazil. Electronic address: fmstefanello@gmail.com.
Publikováno v:
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 Nov 19; Vol. 734, pp. 150635. Date of Electronic Publication: 2024 Aug 30.
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:
Du M; Henan Pediatric Clinical Research Center and Key Laboratory of Child Brain Injury, Institute of Neuroscience, Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfuqian Street, Erqi District, Zhengzhou, China.; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China., Wu S; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China., Chen Y; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China., Yuan S; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China., Dong S; Department of Radiology, Henan Children's Hospital, Zhengzhou, China., Wang H; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China., Wei H; Henan Pediatric Clinical Research Center and Key Laboratory of Child Brain Injury, Institute of Neuroscience, Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfuqian Street, Erqi District, Zhengzhou, China. Haiyanwei2009@163.com.; Department of Endocrinology, Genetics and Metabolism, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China. Haiyanwei2009@163.com., Zhu C; Henan Pediatric Clinical Research Center and Key Laboratory of Child Brain Injury, Institute of Neuroscience, Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfuqian Street, Erqi District, Zhengzhou, China. changlian.zhu@neuro.gu.se.; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden. changlian.zhu@neuro.gu.se.
Publikováno v:
Scientific reports [Sci Rep] 2024 Oct 14; Vol. 14 (1), pp. 23992. Date of Electronic Publication: 2024 Oct 14.
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:
Zhang Z; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Sun Y; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Wang YY; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Ma DY; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Wang X; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Cheng W; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China., Jiang T; Center of Newborn Screening, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China - jiangtao6310@163.com.
Publikováno v:
Minerva pediatrics [Minerva Pediatr (Torino)] 2024 Oct; Vol. 76 (5), pp. 645-651. Date of Electronic Publication: 2021 Oct 14.
Autor:
Zhu ZX; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Genchev GZ; Center of Excellence in Computational Molecular Biology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Wang YM; Newborn Screening Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Ji W; Newborn Screening Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Ren YY; SJTU-Yale Joint Center for Biostatistics and Data Science, National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China., Tian GL; Newborn Screening Center, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. tiangl@shchildren.com.cn., Sriswasdi S; Center of Excellence in Computational Molecular Biology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. sira.sr@chula.ac.th.; Center for Artificial Intelligence in Medicine, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. sira.sr@chula.ac.th., Lu H; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. huilu@sjtu.edu.cn.; SJTU-Yale Joint Center for Biostatistics and Data Science, National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China. huilu@sjtu.edu.cn.; State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic & Developmental Sciences, Department of Bioinformatics and Biostatistics, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China. huilu@sjtu.edu.cn.
Publikováno v:
World journal of pediatrics : WJP [World J Pediatr] 2024 Oct; Vol. 20 (10), pp. 1090-1101. Date of Electronic Publication: 2024 Feb 24.
Autor:
Watanabe D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Department of Pediatrics, Yamanashi University School of Medicine, Yamanashi, Japan., Tsujioka Y; Department of Radiology, Keio University School of Medicine, Tokyo, Japan., Nakato D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Ohnishi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Tamai N; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kijima T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Narumi S; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@keio.jp.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Oct; Vol. 71, pp. 104967. Date of Electronic Publication: 2024 Aug 14.
Autor:
Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK., Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.
Publikováno v:
Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 413-416. Date of Electronic Publication: 2024 Sep 13.
Autor:
Yoldaş Çelik M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Canda E; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yazıcı H; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Erdem F; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Yüksel Yanbolu A; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Aykut A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Durmaz A; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Anık A; Aydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, Turkey, Kalkan Uçar S; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey, Çoker M; Ege University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, Turkey
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Sep 05; Vol. 16 (3), pp. 361-366. Date of Electronic Publication: 2023 Jan 04.
Autor:
Sikirica V; Moderna, Inc., Cambridge, MA, USA. Electronic address: Vanja.Sikirica@modernatx.com., Schwartz EJ; ICON plc, Raleigh, NC, USA. Electronic address: Ethan.Schwartz@iconplc.com., Vockley J; University of Pittsburgh, School of Medicine, Pittsburgh, PA, USA. Electronic address: vockleyg@upmc.edu., Stagni K; Organic Acidemia Association, Golden Valley, MN, USA., Bellenger MA; ICON plc, Raleigh, NC, USA. Electronic address: Alex.Bellenger@iconplc.com., Banerjee G; Moderna, Inc., Cambridge, MA, USA. Electronic address: Geetanjoli.Banerjee@modernatx.com., Durgam N; ICON plc, Raleigh, NC, USA. Electronic address: Neha.Durgam@iconplc.com., Moshkovich O; ICON plc, Raleigh, NC, USA. Electronic address: Olga.Moshkovich@iconplc.com.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108577. Date of Electronic Publication: 2024 Sep 13.