(Q40527301)

English

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

scientific article published on September 2004

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scholarly article

1 reference

Europe PubMed Central

21 September 2017

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy (English)

1 reference

Europe PubMed Central

21 September 2017

enzyme replacement therapy

0 references

mucopolysaccharidosis I

1 reference

based on heuristic

inferred from title

author name string

Yogalingam G

1

1 reference

Europe PubMed Central

21 September 2017

Guo XH

2

1 reference

Europe PubMed Central

21 September 2017

Muller VJ

3

1 reference

Europe PubMed Central

21 September 2017

Brooks DA

4

1 reference

Europe PubMed Central

21 September 2017

Clements PR

5

1 reference

Europe PubMed Central

21 September 2017

Kakkis ED

6

1 reference

Europe PubMed Central

21 September 2017

Hopwood JJ

7

1 reference

Europe PubMed Central

21 September 2017

language of work or name

1 reference

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publication date

1 September 2004

1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

24

1 reference

Europe PubMed Central

21 September 2017

3

1 reference

Europe PubMed Central

21 September 2017

199-207

1 reference

Europe PubMed Central

21 September 2017

Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

21 January 2018

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

21 January 2018

Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

21 January 2018

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic enzymology of alpha-L-iduronidase with special reference to a sulphated disaccharide derived from heparin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

pEF-BOS, a powerful mammalian expression vector

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20081

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20081

1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

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