(Q40587905)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

title

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

enzyme replacement therapy

24 November 2019

main subject

0 references

1 reference

6

1 reference

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24 November 2019

7

John J Hopwood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

author name string

L Karageorgos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

P Harmatz

2

1 reference

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24 November 2019

J Simon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

A Pollard

4

1 reference

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24 November 2019

P R Clements

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

publication date

1 March 2004

1 reference

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24 November 2019

1 reference

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24 November 2019

volume

23

1 reference

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24 November 2019

issue

3

1 reference

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24 November 2019

page(s)

229-233

1 reference

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Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase

24 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

7 January 2021

Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

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.10313

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.10313

7 January 2021

Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

7 January 2021

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10313

7 January 2021

Identifiers

DOI

10.1002/HUMU.10313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14974081%20AND%20SRC:MED&resulttype=core&format=json

24 November 2019

1 reference