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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.
Autor:
de Sequera P; Departamento de Medicina, Universidad Complutense, Madrid, Spain; Servicio de Nefrología, Hospital Universitario Infanta Leonor, Madrid, Spain. Electronic address: patricia.desequera@salud.madrid.org., Pérez-García R; Servicio de Nefrología, Hospital Universitario Infanta Leonor, Madrid, Spain., Molina M; Servicio de Nefrología, Hospital Universitario General de Santa Lucía, Cartagena, Spain., Álvarez-Fernández G; Servicio de Nefrología, Hospital Universitario General de Santa Lucía, Cartagena, Spain., Muñoz-González RI; Servicio de Nefrología, Hospital Galdakao-Usansolo, Galdácano, Spain., Mérida E; Servicio de Nefrología, Hospital Universitario 12 de Octubre, Madrid, Spain., Camba MJ; Servicio de Nefrología, Complejo Hospitalario Universitario de Ourense, Orense, Spain., Blázquez LA; Servicio de Nefrología, Hospital General Universitario de Guadalajara, Guadalajara, Spain., Alcaide MP; Servicio de Nefrología, Hospital Universitario Virgen del Rocío, Sevilla, Spain., Echarri R; Servicio de Nefrología, Hospital Universitario Infanta Sofia, Madrid, Spain.
Publikováno v:
Nefrologia [Nefrologia (Engl Ed)] 2022 May-Jun; Vol. 42 (3), pp. 327-337. Date of Electronic Publication: 2021 Dec 29.
Autor:
de Sequera P; Departamento de Medicina, Universidad Complutense, Madrid, España; Servicio de Nefrología, Hospital Universitario Infanta Leonor, Madrid, España. Electronic address: patricia.desequera@salud.madrid.org., Pérez-García R; Servicio de Nefrología, Hospital Universitario Infanta Leonor, Madrid, España., Molina M; Servicio de Nefrología, Hospital Universitario General de Santa Lucía, Cartagena, España., Álvarez-Fernández G; Servicio de Nefrología, Hospital Universitario General de Santa Lucía, Cartagena, España., Muñoz-González RI; Servicio de Nefrología, Hospital Galdakao-Usansolo. Galdácano, España., Mérida E; Servicio de Nefrología, Hospital Universitario 12 de Octubre, Madrid, España., Camba MJ; Servicio de Nefrología, Complejo Hospitalario Universitario de Ourense, Orense, España., Blázquez LA; Servicio de Nefrología, Hospital General Universitario de Guadalajara, Guadalajara, España., Alcaide MP; Servicio de Nefrología, Hospital Universitario Virgen del Rocío, Sevilla, España., Echarri R; Servicio de Nefrología, Hospital Universitario Infanta Sofia, Madrid, España.
Publikováno v:
Nefrologia [Nefrologia (Engl Ed)] 2021 Aug 11. Date of Electronic Publication: 2021 Aug 11.
Autor:
Otero Gonzalez A; Servicio de Nefrología-Unidad Investigación, C.H Universitario de Ourense, Ourense, Spain., Prol MP, Caride MJ, Nores JS, Novoa E, Melon CP, Macia P, Alves MT, Cid M, Osorio E, Coto E, Macias Nuñez JF
Publikováno v:
International urology and nephrology [Int Urol Nephrol] 2015 Aug; Vol. 47 (8), pp. 1403-8. Date of Electronic Publication: 2015 Jul 08.
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2008 Jul; Vol. 23 (7), pp. 2434-5. Date of Electronic Publication: 2008 Apr 09.