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Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome |
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| Authors: | Sunita Bijarnia Peter Shaw Anne Vimpani Robert Smith Verity Pacey Helen O'Grady John Christodoulou David Sillence |
| Institution: | Department of Genetic Metabolic Medicine, The Children's Hospital at Westmead,;University Disciplines of Genetic Medicine and Paediatrics &Child Health, Children's Hospital at Westmead Clinical School,;Department of Oncology, The Children's Hospital at Westmead, Westmead,;Kaleidoscope Children's Health Network,;John Hunter Children's Hospital and University Discipline of Paediatrics and Child Health, Newcastle,;Department of Physiotherapy and;Departments of Clinical Genetics &Academic Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia |
| Abstract: | We report the long-term follow-up of successful treatment of mucopolysaccharidosis type I H (MPS IH, Hurler syndrome) with combined enzyme replacement therapy and haematopoietic progenitor stem cell transplant. |
| Keywords: | enzyme replacement therapy (ERT) haematopoietic stem cell transplantation Hurler syndrome laronidase mucopolysaccharidosis type I H (MPS IH) |