Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients-Reference-Cited by-同舟云学术

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Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients

Published:2013-08 Issue:4 Volume:109 Page:377-381
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Oussoren Esmee,Keulemans Joke,van Diggelen Otto P.,Oemardien Linda F.,Timmermans Remco G.,van der Ploeg Ans T.,Ruijter George J.G.

Funder

ZonMw (the Netherlands Organisation for Health Research and Development)

European Union 7th Framework Programme ‘Euclyd’

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference29 articles.

1. The Metabolic Bases of Inherited Disease;Neufeld,2001

2. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment;Giugliani;Genet. Mol. Biol.,2010

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

4. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature;Terlato;Genet. Med.,2003

5. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-l-iduronidase (IDUA) alleles;Bertola;Hum. Mutat.,2011

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