Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Miguel LD"'
Autor:
Clara Carnicer, Laura Gort, Amaia Lasa-Aranzasti, José Antonio Arranz, María Unceta-Suárez, Mireia del Toro, Frederic Tort, Lucia Miguel, Lidia Carreño, Angel Sanchez-Montañez, Elena García-Arumí, Javier de las Heras, Júlia Sala-Coromina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100690-(2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Scientia
Molecular Genetics and Metabolism Reports
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Scientia
Molecular Genetics and Metabolism Reports
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0eb21b6e0782d2c190974608f70bde
http://www.sciencedirect.com/science/article/pii/S2214426920301361
http://www.sciencedirect.com/science/article/pii/S2214426920301361
Autor:
Carnicer-Cáceres C; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: clara.carnicer@vallhebron.cat., Villena-Ortiz Y; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: yolanda.villena@vallhebron.cat., Castillo-Ribelles L; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: laura.castillo@vallhebron.cat., Barquín-Del-Pino R; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: raquel.barquin@vallhebron.cat., Camprodon-Gomez M; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: maria.camprodon@vallhebron.cat., Felipe-Rucián A; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain. Electronic address: ana.felipe@vallhebron.cat., Moreno-Martínez D; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: david.morenomartinez@nhs.net., Lucas-Del-Pozo S; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Hernández-Vara J; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: jorge.hernandez@vallhebron.cat., García-Serra A; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: anna.garcia@vhir.org., Tigri-Santiña A; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: atigri@vhebron.net., Moltó-Abad M; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain; Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), 08035 Barcelona, Spain. Electronic address: marc.molto@vhir.org., Agraz-Pamplona I; Department of Nephrology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: irene.agraz@vallhebron.cat., Rodriguez-Palomares JF; Department of Cardiology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: josefernando.rodriguez@vallhebron.cat., Limeres-Freire J; Department of Cardiology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: javier.limeres@vallhebron.cat., Macaya-Font M; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: marc.macaya@vhebron.net., Rodríguez-Sureda V; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Biochemistry and Molecular Biology Research Centre for Nanomedicine, Hospital Universitari Vall d'Hebron, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: virodriguez@clinic.cat., Miguel LD; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain. Electronic address: lucy.dougherty@vhir.org., Del-Toro-Riera M; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain. Electronic address: mireia.deltoro@vallhebron.cat., Pintos-Morell G; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain. Electronic address: guillem.pintos@vhir.org., Arranz-Amo JA; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: joseantonio.arranz@vallhebron.cat.
Publikováno v:
Blood cells, molecules & diseases [Blood Cells Mol Dis] 2023 Jan; Vol. 98, pp. 102704. Date of Electronic Publication: 2022 Oct 05.
Autor:
Sala-Coromina J; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., Miguel LD; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., de Las Heras J; Division of Pediatric Metabolism, Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER; University of the Basque Country (UPV/EHU), Spain., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., Garcia-Arumi E; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Carreño L; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain., Arranz JA; Metabolic Laboratory, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., Carnicer C; Metabolic Laboratory, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., Unceta-Suárez M; Biochemistry Laboratory (Metabolism Area), Cruces University Hospital, Biocruces-Bizkaia Health Research Institute, CIBER-ER, University of the Basque Country (UPV/EHU), Spain., Sanchez-Montañez A; Pediatric Neuroradiology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain., Gort L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Inborn Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, Spain., Tort F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.; Inborn Errors of Metabolism, Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, Faculty of Medicine and Health Science-University of Barcelona, Internal Medicine Service-Hospital Clínic of Barcelona, Spain., Del Toro M; Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autónoma de Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 15; Vol. 26, pp. 100690. Date of Electronic Publication: 2020 Dec 15 (Print Publication: 2021).