(Q80648228)

English

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations

scientific article published on 20 July 2007

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scholarly article

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2 January 2020

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations (English)

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2 January 2020

mucopolysaccharidosis VI

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based on heuristic

inferred from title

1

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6

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8

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2 January 2020

author name string

Amparo Chabás

2

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2 January 2020

Maria Josep Coll

3

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Mariana Blanco

4

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2 January 2020

Carmen Domínguez

5

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2 January 2020

Lluïsa Vilageliu

7

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publication date

20 July 2007

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2 January 2020

Molecular Genetics and Metabolism

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92

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2 January 2020

1-2

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122-130

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2 January 2020

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

1 reference

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7 January 2021

Structure of the human arylsulfatase B gene.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

Structure of a human lysosomal sulfatase

1 reference

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7 January 2021

Components and proteolytic processing sites of arylsulfatase B from human placenta

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

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

1 reference

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7 January 2021

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

Two novel mutations of the arylsulfatase B gene in a Chinese MPS VI child undergoing bone marrow transplantation therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

1 reference

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7 January 2021

The PSIPRED protein structure prediction server

1 reference

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7 January 2021

Receptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphatase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

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/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

Whole-genome patterns of common DNA variation in three human populations

1 reference

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7 January 2021

The International HapMap Project Web site

1 reference

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7 January 2021

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.06.002

7 January 2021

Incidence of the mucopolysaccharidoses in Western Australia

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2007.06.002

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17643332%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

Europe PubMed Central

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2 January 2020

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