Zobrazeno 1 - 10
of 19 369
pro vyhledávání: '"Enzyme Replacement Therapy"'
Autor:
Schoser B; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Beek NAME; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Broomfield A; Metabolic Department, Great Ormond Street Hospital, London, UK., Brusse E; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Diaz-Manera J; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK., Hahn A; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany., Hundsberger T; Department of Neurology, Cantonal Hospital St Gallen, St Gallen, Switzerland., Kornblum C; Neuromuscular Diseases Section, Department of Neurology, University Hospital Bonn, Bonn, Germany., Kruijshaar M; Center for Lysosomal and Metabolic Diseases Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Laforet P; Neurology Department, Raymond Poincaré Hospital, Nord-Est-Ile-de-France Neuromuscular Reference Center, Garches, APHP, Paris, France.; FHU PHENIX, Université Versailles Saint Quentin en Yvelines, Paris-Saclay University, Paris, France., Mengel E; Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany., Mongini T; Neuromuscular Unit, Department of Neurosciences RLM, University of Torino, Torino, Italy., Orlikowski D; Clinical Investigation Center 1429 APHP/INSERM, UMR 1179, Hôpital Raymond Poincaré, Université de Versailles Saint Quentin/Paris Saclay, FHU PHENIX, Paris, France., Parenti G; Department of Translational Medicine, Federico II University, Naples, Italy., Pijnappel WWMP; Department of Clinical Genetics, Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Roberts M; Manchester Centre for Clinical Neurosciences, Manchester, UK., Scherer T; Division of Endocrinology, Innere III, Medical University of Vienna, Vienna, Austria., Toscano A; ERN-NMD Center of Messina for Rare Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., van den Hout JMP; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Doorn PA; Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Wenninger S; Department of Neurology, Friedrich-Baur-Institute, LMU Clinics Munich, Munich, Germany., van der Ploeg AT; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Publikováno v:
European journal of neurology [Eur J Neurol] 2024 Sep; Vol. 31 (9), pp. e16383. Date of Electronic Publication: 2024 Jun 14.
Autor:
Al-Hertani W; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Pathak RR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Evuarherhe O; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Carter G; Oxford PharmaGenesis, Oxford OX13 5QJ, UK., Schaeffer-Koziol CR; Takeda Pharmaceuticals USA, Inc., Lexington, MA 02421, USA., Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA., Wright E; Takeda Development Center Americas, Inc., Lexington, MA 02421, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Aug 06; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 06.
Autor:
Høj A; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark; Copenhagen Neuromuscular Center Department 8077, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark. Electronic address: astrid.hoej@regionh.dk., Ørngreen MC; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark., Naume MM; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark., Lund AM; Center for Inherited Metabolic Diseases, Departments of Paediatrics and Adolescent Medicine and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Copenhagen, Denmark.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108515. Date of Electronic Publication: 2024 Jun 13.
Autor:
Shima H; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan. h.shima@khg.or.jp., Tsukimura T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Shiga T; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Togawa T; Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan., Doi T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Ikeda Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okamoto T; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Yoshikawa Y; Department of Laboratory, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Kimura T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Iwase T; Department of Cardiovascular Medicine, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Inoue T; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Tashiro M; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Okada K; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan., Minakuchi J; Department of Kidney Disease, Kawashima Hospital, 6-1 Kitasakoichiban-Cho, Tokushima, 770-0011, Japan.
Publikováno v:
CEN case reports [CEN Case Rep] 2024 Aug; Vol. 13 (4), pp. 290-296. Date of Electronic Publication: 2023 Dec 22.
Autor:
Schuh RS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: roselena.schuh@ufrgs.br., Franceschi EP; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Brum BB; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Fachel FNS; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Poletto É; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Vera LNP; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Santos HS; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Medeiros-Neves B; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Monteagudo de Barros V; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil., Helena da Rosa Paz A; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Baldo G; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Matte U; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Giugliani R; Cells, Tissues and Genes, Experimental Research Centre, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil., Ferreira Teixeira H; Postgraduate Program in Pharmaceutical Sciences, UFRGS, Porto Alegre, RS, Brazil.
Publikováno v:
International journal of pharmaceutics [Int J Pharm] 2024 Jul 20; Vol. 660, pp. 124355. Date of Electronic Publication: 2024 Jun 17.
Autor:
Castellar-Leones SM; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia. smcastellarl@unal.edu.co.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia. smcastellarl@unal.edu.co.; Hospital Universitario Nacional de Colombia, Bogotá, Colombia. smcastellarl@unal.edu.co., Ortiz-Corredor F; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia.; Hospital Universitario Nacional de Colombia, Bogotá, Colombia.; Instituto Roosevelt, Bogotá, Colombia., Manrique-Hernández D; Universidad de la Sabana, Chía, Colombia., Sánchez-Peñarete D; Hospital Universitario San Ignacio, Bogotá, Colombia., Ruiz-Ospina E; Facultad de Medicina, Universidad Nacional de Colombia, Carrera 30 No. 45-03. Edificio 471, Piso 5to, Of. 513-A, Bogotá, Colombia.; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia., Soto-Peña D; Instituto Roosevelt, Bogotá, Colombia., Correa-Arrieta C; Centro de Investigación en Fisiatría y Electrodiagnóstico, CIFEL, Bogotá, Colombia.; Instituto Roosevelt, Bogotá, Colombia.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Jul 18; Vol. 18 (1), pp. 328. Date of Electronic Publication: 2024 Jul 18.
Autor:
Dubiela P; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland.; Department of Pathophysiology and Allergy Research, Medical University of Vienna, 1090 Vienna, Austria., Szymanska-Rozek P; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 00-927 Warsaw, Poland., Hasinski P; Department of Internal Medicine and Gastroenterology, Municipal Hospital, 43-100 Tychy, Poland., Lipinski P; Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, 00-136 Warsaw, Poland., Kleinotiene G; Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania., Giersz D; Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland., Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.
Publikováno v:
Biomolecules [Biomolecules] 2024 Jul 12; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 12.
Autor:
Rivelli A; Advocate Aurora Health, Downers Grove, IL, USA.; Advocate Aurora Research Institute, Downers Grove, IL, USA., Vora JB; AbbVie Inc., North Chicago, IL, USA., Diaz D; AbbVie Inc., North Chicago, IL, USA., Fitzpatrick V; Advocate Aurora Health, Downers Grove, IL, USA.; Advocate Aurora Research Institute, Downers Grove, IL, USA.
Publikováno v:
The Journal of international medical research [J Int Med Res] 2024 Jul; Vol. 52 (7), pp. 3000605241261332.
Autor:
Calthorpe R; School of Medicine, University of Nottingham, Nottingham, UK; NIHR Nottingham Biomedical Research Centre, Nottingham, UK., Rosenfeld M; Seattle Children's Research Institute and Department of Pediatrics, University of Washington School of Medicine, US., Goss CH; Seattle Children's Research Institute and Department of Pediatrics, University of Washington School of Medicine, US; Division of Pulmonary, Critical Care and Sleep Medicine, University of Washington School of Medicine, US., Green N; Seattle Children's Research Institute and Department of Pediatrics, University of Washington School of Medicine, US; Division of Gastroenterology, University of Washington School of Medicine, US., Derleth M; Division of Gastroenterology, University of Washington School of Medicine, US., Carr SB; National Heart and Lung Institute, NIHR Imperial Biomedical Research Centre, Imperial College, London, UK; Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, part of GSTT NHS Foundation Trust, London, UK., Smyth A; School of Medicine, University of Nottingham, Nottingham, UK; NIHR Nottingham Biomedical Research Centre, Nottingham, UK; School of Medicine, Dentistry and Biomedical Sciences, Queens University Belfast, Belfast., Stewart I; National Heart and Lung Institute, NIHR Imperial Biomedical Research Centre, Imperial College, London, UK. Electronic address: iain.stewart@imperial.ac.uk.
Publikováno v:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2024 Jul; Vol. 23 (4), pp. 746-753. Date of Electronic Publication: 2024 Feb 10.
Autor:
Zhou LL; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Shao YQ; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Xia P; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Wu XQ; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Chen QY; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China., Xu QL; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.
Publikováno v:
Zhonghua nei ke za zhi [Zhonghua Nei Ke Za Zhi] 2024 Sep 01; Vol. 63 (9), pp. 886-888.