Enzyme-Replacement Therapy in Mucopolysaccharidosis I
Top Cited Papers
- 18 January 2001
- journal article
- clinical trial
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 344 (3), 182-188
- https://doi.org/10.1056/nejm200101183440304
Abstract
Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme α-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human α-L-iduronidase in patients with this disorder.Keywords
This publication has 22 references indexed in Scilit:
- Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.Journal of Clinical Investigation, 1998
- Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centresArchives of Disease in Childhood, 1997
- Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome.Journal of Clinical Investigation, 1996
- Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implicationsHuman Mutation, 1995
- Overexpression of the Human Lysosomal Enzyme α-L-Iduronidase in Chinese Hamster Ovary CellsProtein Expression and Purification, 1994
- Long‐term outcome of Hurler syndrome following bone marrow transplantationAmerican Journal of Medical Genetics, 1993
- Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's DiseaseNew England Journal of Medicine, 1991
- The clinical spectrum of α‐L‐iduronidase deficiencyAmerican Journal of Medical Genetics, 1985
- Human β-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cellsCell, 1978
- Recognition and receptor-mediated uptake of a lysosomal enzyme, α-l-iduronidase, by cultured human fibroblastsCell, 1977