Enhanced operation of the Eu Ec test facility

Autor: Fasel, D., Alberti, S., Dubray, J., Goodman, T., Hogge, J.-P., Minelli, D., Siravo, U., Perez, A., Albajar, F., Carannante, G., Sanchez, P., Sartori, F., Cavinato, M., De Frutos, L.

Publikováno v: In Fusion Engineering and Design September 2019 146 Part B:1942-1946

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.

Autor: de Castro MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., Jones SA; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK. simonallanjones@gmail.com.; School of Biological Sciences, Facutly of Biology, Medicine and Health, The University of Manchester, Manchester, UK. simonallanjones@gmail.com., de Las Heras J; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain., Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., Colón C; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., Crujeiras P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., Unceta M; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain., Church H; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., Brammeier K; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., Yee WH; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., Cooper J; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., López de Frutos L; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain., Serrano-Gonzalo I; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain., Camba MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain., White FJ; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., Holmes V; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK., Ghosh A; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; School of Biological Sciences, Facutly of Biology, Medicine and Health, The University of Manchester, Manchester, UK.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 25; Vol. 19 (1), pp. 244. Date of Electronic Publication: 2024 Jun 25.

The role of negative affects as mediators in the relationship between stress and mental health in Ecuadorian adolescents.

Autor: Moreta-Herrera R; Pontifical Catholic University of Ecuador, Ambato, Ecuador.; University of Girona, Girona, Spain., Zumba-Tello D; Pontifical Catholic University of Ecuador, Ambato, Ecuador., Jaisalmer de Frutos- L; Complutense University of Madrid, Madrid, Spain.; Edith Cowan University, Joondalup, Australia., Llerena-Freire S; Technological University Indoamerica, Ambato, Ecuador., Salinas-Palma A; Higher Polytechnic School of the Litoral (ESPOL), Guayaquil, Ecuador., Trucharte-Martínez A; Camilo José Cela University, Madrid, Spain.

Publikováno v: Health psychology report [Health Psychol Rep] 2023 Jun 26; Vol. 11 (3), pp. 241-251. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023).

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Descripción de una nueva variante asociada a porfiria cutánea tarda

Autor: Lopez de Frutos, L., Lahoz-Gil, C., García Latasa de Aranibar, F.J.., Sarría Octavio de Toledo, L., Giraldo, P.

Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza

Poster [PC-093] La porfiria cutánea tarda (PCT) se debe a una alteración en la función de la enzima uroporfirógeno descarboxilasa, necesaria para la correcta síntesis del grupo hemo. Clínicamente, se caracteriza por fotosensibilidad y un cuadro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::225b2f91c6018954cb2ccc8e8efa40c2
http://zaguan.unizar.es/record/96000