Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy-Reference-Cited by-同舟云学术

Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy

Published:2004-09 Issue:3 Volume:24 Page:199-207
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Yogalingam G.,Guo X.-H.,Muller V.J.,Brooks D.A.,Clements P.R.,Kakkis E.D.,Hopwood J.J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase;Anson;Biochem J,1992

2. Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients;Ashton;Am J Hum Genet,1992

3. Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene;Bunge;Hum Mutat,1995

4. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies;Bunge;Biochim Biophys Acta,1998

5. Mutation analysis of 19 North American MPS type I patients: identification of two additional frequent mutations;Clarke;Hum Mutat,1994

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