Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Autor: Mastrangelo M; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy., Tolve M; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Artiola C; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Bove R; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy., Carducci C; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Carducci C; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Angeloni A; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy., Pisani F; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy., Leuzzi V; Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.; Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy.

Publikováno v: Genes [Genes (Basel)] 2023 Jan 19; Vol. 14 (2). Date of Electronic Publication: 2023 Jan 19.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Autor: Carducci C; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Amayreh W; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan.; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan., Ababneh H; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan.; Department of Biotechnology and Genetic Engineering Jordan University of Science and Technology Irbid Jordan., Mahasneh A; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan.; Department of Biotechnology and Genetic Engineering Jordan University of Science and Technology Irbid Jordan., Al Rababah B; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan., Al Qaqa K; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan., Al Aqeel M; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan., Artiola C; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Tolve M; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., D'Amici S; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Shen N; Department of Rehabilitation Medicine Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China., Yu Y; Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai China., Hillert A; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Himmelreich N; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Okun JG; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Hoffmann GF; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Blau N; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany.; Division of Metabolism University Children's Hospital Zürich Switzerland.

Publikováno v: JIMD reports [JIMD Rep] 2020 May 19; Vol. 55 (1), pp. 59-67. Date of Electronic Publication: 2020 May 19 (Print Publication: 2020).

SYNTHESIS OF GUANIDINOACETATE AND CREATINE IN NEURONS AND GLIAL CELLS

Autor: Leuzzi, Vincenzo, Carducci, Claudia, Carducci, Carla, Santagata, S., Artiola, C., Antonozzi, I., Adriano, E., Robello, M., Gatta, E., Florio, T., Thellung, S., Balestrino, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::2dbe8658ca273c6ba65aa9497ba477f9
http://hdl.handle.net/11573/120826

A study of AGAT and GAMT gene polymorphisms in Italian population

Autor: Carducci, Carla, Battini, R, Artiola, C, Giovanniello, T, Voli, A, Leuzzi, Vincenzo, Antonozzi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::72e2cf49abe1ea6dbee07f40151264e6
http://hdl.handle.net/11573/54153

Method for the determination of guanidinoacetate methyltransferase activity by ESI/MS-MS

Autor: Carducci, Cl, Carducci, Carla, Artiola, C., Santagata, S., Ellul, L., Leuzzi, Vincenzo, Antonozzi, Italo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::d6cacee6b22d2b370d29b82e0781ae15
http://hdl.handle.net/11573/234513