Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature (Q26830003)

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29 February 2020

review article

0 references

title

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

main subject

mucopolysaccharidosis VI

8 references

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29 February 2020

Anna Tylki-Szymańska

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1

Agnieszka Jurecka

2 references

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29 February 2020

author name string

Ekaterina Zakharova

series ordinal

2

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elena Voskoboeva

series ordinal

4

2 references

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29 February 2020

language of work or name

1 reference

13 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

published in

Clinical Rheumatology

10 references

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22 April 2019

25 April 2019

17 June 2019

28 September 2019

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29 February 2020

volume

33

2 references

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29 February 2020

page(s)

725-731

1 reference

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29 February 2020

issue

5

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Creative Commons Attribution-NonCommercial 2.0 Generic

29 February 2020

copyright license

start time

13 November 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Mucopolysaccharidosis VI.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

28 September 2017

1 reference

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Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years. (Maroteaux-Lamy syndrome, type B)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

28 September 2017

1 reference

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000421

Mutational analysis of 105 mucopolysaccharidosis type VI patients

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10067-013-2423-Z

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10067-013-2423-Z

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10067-013-2423-Z

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

21 January 2018

1 reference

12 December 2020

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

1 reference

12 December 2020

Mucopolysaccharidosis VI (Maroteaux-Lamy's disease)

1 reference

12 December 2020

[An uncommon phenotype of Hurler's syndrome]

1 reference

12 December 2020

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

1 reference

12 December 2020

Maroteaux-Lamy syndrome, mild form--MPS vi b

1 reference

12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

1 reference

12 December 2020

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)

1 reference

12 December 2020

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

1 reference

12 December 2020

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

1 reference

12 December 2020

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I

1 reference

12 December 2020

10.1007/S10067-013-2423-Z

Identifiers

DOI

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29 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24221504%20AND%20SRC:MED&resulttype=core&format=json