Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

Sunita Bijarnia; Peter Shaw; Anne Vimpani; Robert Smith; Verity Pacey; Helen O'Grady; John Christodoulou; David Sillence

doi:10.1111/j.1440-1754.2009.01537.x

Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

J Paediatr Child Health. 2009 Jul-Aug;45(7-8):469-72. doi: 10.1111/j.1440-1754.2009.01537.x.

Authors

Sunita Bijarnia¹, Peter Shaw, Anne Vimpani, Robert Smith, Verity Pacey, Helen O'Grady, John Christodoulou, David Sillence

Affiliation

¹ Department of Genetic Metabolic Medicine, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.

PMID: 19712183
DOI: 10.1111/j.1440-1754.2009.01537.x

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
Combined Modality Therapy
Enzyme Replacement Therapy / methods*
Female
Follow-Up Studies
Hematopoietic Stem Cell Transplantation*
Humans
Iduronidase / deficiency
Iduronidase / therapeutic use*
Infant
Mucopolysaccharidosis I / diagnosis
Mucopolysaccharidosis I / drug therapy*
Mucopolysaccharidosis I / enzymology
Mucopolysaccharidosis I / surgery*
Treatment Outcome

Substances

Iduronidase