(Q83936863)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

I Gottwald

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

J Hughes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

F Stewart

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

K Tylee

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

H Church

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

S A Jones

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

publication date

7 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

29 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

103

1 reference

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29 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

300-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.024

Mutational analysis of 105 mucopolysaccharidosis type VI patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.024

Standard reference for the six-minute-walk test in healthy children aged 7 to 16 years.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.024

Mucopolysaccharidosis VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.024

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.024

10.1016/J.YMGME.2011.03.024

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21514195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference