caa a22 4500 467932972 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20061201xx s 000 0 eng 10.1007/s10545-006-0457-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0457-y Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome [Elektronische Daten] [J. Thomas, S. Jacobs, J. Kierstein, J. Hove] Summary: Enzyme replacement therapy (ERT) with laronidase, recombinant α-l-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler-Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient. SSIEM and Springer, 2006 Thomas J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut Jacobs S. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut Kierstein J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut Hove J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 762-762 0141-8955 29:6<762 2006 29 10545 https://doi.org/10.1007/s10545-006-0457-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0457-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Thomas J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut NATIONALLICENCE 700 1- Jacobs S. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut NATIONALLICENCE 700 1- Kierstein J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut NATIONALLICENCE 700 1- Hove J. Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 762-762 0141-8955 29:6<762 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer