Zobrazeno 1 - 10
of 34 302
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:
Dos Reis BG; Departamento de Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., Becker GS; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., Marchetti DP; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., de Moura Coelho D; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., Sitta A; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., Wajner M; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil., Vargas CR; Departamento de Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. crvargas@hcpa.edu.br.; Serviço de Genética Médica, Hospital de Clíınicas de Porto Alegre, Ramiro Barcelos, 2350, CEP 90035-003, RS, Porto Alegre, Brazil. crvargas@hcpa.edu.br.
Publikováno v:
Metabolic brain disease [Metab Brain Dis] 2024 Nov 16; Vol. 40 (1), pp. 6. Date of Electronic Publication: 2024 Nov 16.
Autor:
Yin Z; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China., Zhang C; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.; Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.; Graduate School of Peking Union Medical College, Beijing, China., Dong R; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China., Zhang X; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China., Song Y; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.; Graduate School of Peking Union Medical College, Beijing, China., Hao S; Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China., Gai Z; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China., Zhou B; Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China., Hui L; Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China., Wang S; Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China., Xue H; Department of Cytogenetic Laboratory, Shanxi Children's Hospital, Shanxi Women and Children Hospital, Affiliated Hospital of Shanxi Medical University, Taiyuan, China., Cao Z; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China. zongfu_cao@163.com.; Graduate School of Peking Union Medical College, Beijing, China. zongfu_cao@163.com., Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China. y_liu99@sina.com., Ma X; National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China. maxubioinfo@163.com.; Graduate School of Peking Union Medical College, Beijing, China. maxubioinfo@163.com.
Publikováno v:
European journal of medical research [Eur J Med Res] 2024 Nov 10; Vol. 29 (1), pp. 540. Date of Electronic Publication: 2024 Nov 10.
Autor:
Ma X; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Lu M; Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, 361003, China., Chen Z; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.; Department of Pediatrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, 361003, China., Zhang H; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Song J; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Dong H; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Jin Y; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Li M; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., He R; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.; Department of Respiratory Medicine, Beijing Children's Hospital, National Centre for Children's Health, Capital Medical University, Beijing, 100045, China., Kang L; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.; Department of Pediatrics, the First Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China., Liu Y; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China.; Department of clinical laboratory, China-Japan Friendship Hospital, 100029, Beijing, China., Chen Y; Department of Endocrinology and Inherited Metabolic, Henan Children's Hospital, 451161, Zhengzhou, China., Zhu Z; Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, 100050, Beijing, China., Sun L; Department of General Surgery, Beijing Friendship Hospital, Capital Medical University, 100050, Beijing, China., Zhang Y; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China., Yang Y; Children's Medical Center, Peking University First Hospital, No. 5 Leyuan Road, Gaomi Dian, Daxing District, Beijing, 102600, China. organic.acid@vip.126.com.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Nov 07; Vol. 24 (1), pp. 713. Date of Electronic Publication: 2024 Nov 07.
Autor:
Zhou W; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Huang T; Department of Pharmacy, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Li H; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China., Gu M; Neonatal Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, Jiangsu, China.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70034.
Autor:
Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Hsu PC; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Liu YH; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Wang HC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan., Chen TI; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan., Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2024 Nov; Vol. 202, pp. 106707. Date of Electronic Publication: 2024 Oct 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:
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.