Zobrazeno 1 - 10
of 35 105
pro vyhledávání: '"Amino-acid metabolism"'
Autor:
Yap S; Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, UK. sufin.yap@nhs.net., Gasperini S; Metabolic Rare Disease Unit 'Fondazione Mariani', Pediatric Department, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Matsumoto S; Department of Neonatology, Kumamoto University, Honjo 1-1-1, Chu-oh-ku, Kumamoto, Japan., Feillet F; Pediatric Unit, Reference Center for Inborn Errors of Metabolism, University Hospital of Nancy, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 18; Vol. 19 (1), pp. 464. Date of Electronic Publication: 2024 Dec 18.
Autor:
Yoldas Celik M; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Canda E; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey. ebru.canda@gmail.com., Yazici H; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Erdem F; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Yuksel Yanbolu A; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Atik Altınok Y; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Eraslan C; Department of Radiology, Medical Faculty, Ege University, Izmir, 35040, Turkey., Aykut A; Department of Medical Genetics, Medical Faculty, Ege University, Izmir, 35040, Turkey., Durmaz A; Department of Medical Genetics, Medical Faculty, Ege University, Izmir, 35040, Turkey., Habif S; Department of Medical Biochemistry, Medical Faculty, Ege University, Izmir, 35040, Turkey., Kalkan Ucar S; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey., Coker M; Department of Pediatric Metabolism and Nutrition, Medical Faculty, Ege University, Izmir, 35040, Turkey.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Dec 10; Vol. 184 (1), pp. 72. Date of Electronic Publication: 2024 Dec 10.
Autor:
Beyzaei Z; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran., Moravej H; Department of Pediatric Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran.; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Imanieh MH; Gastroenterology and Hepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Inaloo S; Neuroscience Research Centers, Shiraz University of Medical Sciences, Shiraz, Iran., Geramizadeh B; Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran. geramib@gmail.com.; Department of Pathology, Shiraz University of Medical Sciences, Khalili St., Research Tower, Seventh Floor, Shiraz Transplant Research Center (STRC), Shiraz, Iran. geramib@gmail.com.
Publikováno v:
BMC pediatrics [BMC Pediatr] 2024 Dec 04; Vol. 24 (1), pp. 795. Date of Electronic Publication: 2024 Dec 04.
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.