Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.

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第一作者： Jaap,van Doorn

第一单位： Department of Genetics, Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: j.vandoorn@umcutrecht.nl.

作者： Jaap,van Doorn ^[1] ; Brigitte T A,van den Broek ^[2] ; Ans J,Geboers ^[3] ; Gé-Ann,Kuiper ^[4] ; Jaap J,Boelens ^[5] ; Peter M,van Hasselt ^[6]

作者单位： Department of Genetics, Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: j.vandoorn@umcutrecht.nl. ^[1] Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Sylvia Toth Center for Multidisciplinary Follow up after Hematopoietic Cell Transplantation, Utrecht, the Netherlands; Blood and Marrow Transplantation Program, Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. ^[2] Department of Genetics, Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. ^[3] Department of Pediatrics and Amsterdam Lysosome Centre "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands. ^[4] Sylvia Toth Center for Multidisciplinary Follow up after Hematopoietic Cell Transplantation, Utrecht, the Netherlands; Blood and Marrow Transplantation Program, Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. ^[5] Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Sylvia Toth Center for Multidisciplinary Follow up after Hematopoietic Cell Transplantation, Utrecht, the Netherlands. ^[6]

关键词 Alpha-iduronidase Dried blood spot Enzyme replacement therapy Hematopoietic stem cell transplantation Mucopolysaccharidosis-I Saliva