(Q45345313)

13 December 2017

title

Mutational analysis of 105 mucopolysaccharidosis type VI patients (English)

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13 December 2017

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10

Roberto Giugliani

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13 December 2017

16

John J Hopwood

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13 December 2017

Litsa Karageorgos

1

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13 December 2017

Doug A Brooks

2

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13 December 2017

Anthony Pollard

3

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13 December 2017

Elizabeth L Melville

4

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13 December 2017

Leanne K Hein

5

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13 December 2017

Peter R Clements

6

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13 December 2017

David Ketteridge

7

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13 December 2017

Stuart J Swiedler

8

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13 December 2017

Michael Beck

9

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13 December 2017

Paul Harmatz

11

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13 December 2017

James E Wraith

12

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13 December 2017

Nathalie Guffon

13

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13 December 2017

Elisa Leão Teles

14

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13 December 2017

M Clara Sá Miranda

15

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13 December 2017

publication date

1 September 2007

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13 December 2017

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13 December 2017

volume

28

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13 December 2017

issue

9

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13 December 2017

page(s)

897-903

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Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values

13 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

Structure of a human lysosomal sulfatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Identification of a Novel Mutation in the ARSB Gene That Is Frequent Among Brazilian MPSVI Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Prevalence of lysosomal storage diseases in Portugal

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20534

7 January 2021

Identifiers

DOI

10.1002/HUMU.20534

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13 December 2017

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