(Q41006881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

main subject

mucopolysaccharidosis I

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

6

J J Hopwood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

S Bunge

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

P R Clements

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

W J Kleijer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

D A Brooks

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

language of work or name

1 reference

1 September 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

4 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

1407

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

page(s)

249-256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

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

4 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Human alpha-L-iduronidase. 2. Catalytic properties.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Human alpha-L-iduronidase: cDNA isolation and expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Post- and Pre-Natal Assessment of α-l-Iduronidase Deficiency with a Radiolabelled Natural Substrate

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

Biochemical Discrimination of Hurler and Scheie Syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2898%2900046-5

7 January 2021

10.1016/S0925-4439(98)00046-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9748610%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference