(Q84943690)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

1

1 reference

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12 February 2020

Ewa Piotrowska

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Anna Tylki-Szymańska

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Violetta Opoka-Winiarska

3

object named as

Violetta Opoka-Winiarska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Adam Golda

2

1 reference

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12 February 2020

publication date

27 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

104

1 reference

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12 February 2020

issue

4

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12 February 2020

page(s)

695-699

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

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

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Management guidelines for mucopolysaccharidosis VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Mucopolysaccharidosis VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Cardiovascular changes in mucopolysaccharidoses in Taiwan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

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.2011.08.024

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Valvular heart disease in four patients with Maroteaux-Lamy syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Aortic stenosis and mucopolysaccharidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Echocardiographic study of paediatric patients with mucopolysaccharidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Endocardial fibroelastosis in mucopolysaccharidosis type VI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Left ventricular aneurysm in a patient with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): clinical and pathological correlation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

Mutational analysis of 105 mucopolysaccharidosis type VI patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.024

10.1016/J.YMGME.2011.08.024

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21917494%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference