Zobrazeno 1 - 10
of 9 186
pro vyhledávání: '"alpha-Galactosidase"'
Autor:
Klein A; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Klug K; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Breyer M; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Grüner J; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Medala VK; Department of Neurology, University Hospital Würzburg, Würzburg, Germany., Nordbeck P; University Hospital Würzburg, Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), Würzburg, Germany.; Department of Internal Medicine 1, Division of Cardiology, University Hospital Würzburg, Würzburg, Germany., Wanner C; University Hospital Würzburg, Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), Würzburg, Germany.; Department of Clinical Research and Epidemiology, Comprehensive Heart Failure Center, University Hospital Würzburg, Würzburg, Germany., Klopocki E; University of Würzburg, Institute for Human Genetics, Würzburg, Germany., Üçeyler N; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; University Hospital Würzburg, Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), Würzburg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 805-817. Date of Electronic Publication: 2024 Apr 15.
Autor:
Veldman BCF; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Schoenmakers DH; Department of Endocrinology and Metabolism, Platform 'Medicine for Society', Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma's Children's Hospital, Amsterdam UMC Location Vrije Universiteit, 1081 HV Amsterdam, The Netherlands., van Dussen L; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Datema MR; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 09; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 09.
Autor:
Juchem M; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Fraunhofer Institute for Toxicology and Experimental Medicine (ITEM), Hannover, Germany., Lehmann N; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany., Behrens YL; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bär C; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Fraunhofer Institute for Toxicology and Experimental Medicine (ITEM), Hannover, Germany; Center of Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Thum T; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany; Center of Translational Regenerative Medicine, Hannover Medical School, Hannover, Germany., Hoepfner J; Institute of Molecular and Translational Therapeutic Strategies, Hannover Medical School, Hannover, Germany. Electronic address: hoepfner.jeannine@mh-hannover.de.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103478. Date of Electronic Publication: 2024 Jun 20.
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:
Gao L; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.; The Children's hospital, Zhejiang University School of Medicine, Hangzhou 310058, China., Lu Z; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Zhang Y; The Children's hospital, Zhejiang University School of Medicine, Hangzhou 310058, China.; Institute of Translational Medicine, Zhejiang University School of Medicine, Hangzhou 310058, China., Liu L; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.; The Children's hospital, Zhejiang University School of Medicine, Hangzhou 310058, China., Sun J; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.; The Children's hospital, Zhejiang University School of Medicine, Hangzhou 310058, China., Fu H; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Mao J; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China., Hu L; Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Publikováno v:
QJM : monthly journal of the Association of Physicians [QJM] 2024 Aug 01; Vol. 117 (8), pp. 566-573.
Autor:
Jaśkiewicz A; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland., Kunicka-Styczyńska A; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland., Baryga A; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland., Gruska RM; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland., Brzeziński S; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland., Świącik B; Department of Sugar Industry and Food Safety Management, Faculty of Biotechnology and Food Sciences, Lodz University of Technology, Wólczańska 171/173, 90-530 Lodz, Poland.
Publikováno v:
Molecules (Basel, Switzerland) [Molecules] 2024 Jul 26; Vol. 29 (15). Date of Electronic Publication: 2024 Jul 26.
Autor:
Bossio S; Department of Experimental and Clinical Medicine, University 'Magna Graecia', 88100 Catanzaro, Italy., Perrotta ID; Department of Biology, Ecology and Earth Sciences, Centre for Microscopy and Microanalysis (CM2), University of Calabria, 87036 Rende, Italy., Lofaro D; e-Health Lab, Department of Mechanical, Energy, Management Engineering, University of Calabria, 87036 Rende, Italy., La Russa D; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy., Rago V; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy., Bonofiglio R; Kidney and Transplantation Research Center, Annunziata Hospital, 87100 Cosenza, Italy., Greco R; Nephrology, Dialysis, and Kidney Transplant Unit, Annunziata Hospital, 87100 Cosenza, Italy., Andreucci M; Department of Health Sciences, Magna Graecia University, 88100 Catanzaro, Italy., Aversa A; Department of Experimental and Clinical Medicine, University 'Magna Graecia', 88100 Catanzaro, Italy., La Russa A; Department of Health Sciences, Magna Graecia University, 88100 Catanzaro, Italy., Perri A; Department of Experimental and Clinical Medicine, University 'Magna Graecia', 88100 Catanzaro, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Jul 19; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 19.
Autor:
Ogata J; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan; Department of Pediatrics, The Jikei University School of Medicine, Japan., Shimada Y; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan., Ohashi T; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan; Department of Pediatrics, The Jikei University School of Medicine, Japan. Electronic address: tohashi@jikei.ac.jp., Kobayashi H; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Japan; Department of Pediatrics, The Jikei University School of Medicine, Japan.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul; Vol. 142 (3), pp. 108494. Date of Electronic Publication: 2024 May 15.
Autor:
Donnelly SC; Editor-in-Chief, QJM.
Publikováno v:
QJM : monthly journal of the Association of Physicians [QJM] 2024 Aug 01; Vol. 117 (8), pp. 551.
Autor:
Kugan M; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., D'Amore S; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Mitra-Royhurst U; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Patel S; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom., Burke D; Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Trust London, United Kingdom., Heales S; Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Trust London, United Kingdom; University College London, United Kingdom., Ramaswami U; Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust London, United Kingdom; University College London, United Kingdom. Electronic address: uma.ramaswami@nhs.net.
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119843. Date of Electronic Publication: 2024 Jul 02.