Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. (Q47990521)

7 February 2018

title

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

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7 February 2018

main subject

mucopolysaccharidosis VI

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8

Eugen Mengel

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7 February 2018

Anke Thümler

1

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7 February 2018

Elke Miebach

2

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7 February 2018

Christina Lampe

3

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7 February 2018

Susanne Pitz

4

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7 February 2018

Wolfgang Kamin

5

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7 February 2018

Christoph Kampmann

6

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7 February 2018

Bianca Link

7

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7 February 2018

publication date

23 March 2012

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7 February 2018

Journal of Inherited Metabolic Disease

published in

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7 February 2018

volume

35

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7 February 2018

page(s)

1071-1079

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7 February 2018

issue

6

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7 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-012-9474-1

exact match

0 references

cites work

Reference equations for the six-minute walk in healthy adults

1 reference

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Management guidelines for mucopolysaccharidosis VI.

21 January 2018

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Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

21 January 2018

1 reference

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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9474-1

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9474-1

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9474-1

Mutational analysis of 105 mucopolysaccharidosis type VI patients

21 January 2018

1 reference

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Echocardiographic study of paediatric patients with mucopolysaccharidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9474-1

Multilevel myelopathy in Maroteaux-Lamy syndrome and review of the literature

21 January 2018

1 reference

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Mucopolysaccharidosis VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9474-1

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

21 January 2018

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

21 January 2018

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12 December 2020

Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study

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12 December 2020

Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

1 reference

12 December 2020

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

1 reference

12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

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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

The ocular features of the mucopolysaccharidoses

1 reference

12 December 2020

Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses

1 reference

12 December 2020

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

1 reference

12 December 2020

Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

10.1007/S10545-012-9474-1

Identifiers

DOI

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7 February 2018

release_gwwsewhw7bhjrdvxz3r7kcns3i

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gwwsewhw7bhjrdvxz3r7kcns3i

24 November 2022

mapped directly with Wikidata item

PubMed ID

22441840

1 reference

7 February 2018