(Q82763152)

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17 January 2020

title

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

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17 January 2020

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0 references

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1

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17 January 2020

Ewa Piotrowska

2

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17 January 2020

Katrin Ounap

8

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17 January 2020

Grzegorz Węgrzyn

9

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17 January 2020

Anna Tylki-Szymańska

10

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17 January 2020

author name string

Loreta Cimbalistiene

3

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17 January 2020

Nina Gusina

4

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17 January 2020

Agnieszka Sobczyńska

5

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17 January 2020

Barbara Czartoryska

6

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17 January 2020

Kamila Czerska

7

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17 January 2020

publication date

11 November 2011

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Molecular Genetics and Metabolism

17 January 2020

published in

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17 January 2020

volume

105

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17 January 2020

issue

2

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17 January 2020

page(s)

237-243

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Mucopolysaccharidosis VI.

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Structure of the human arylsulfatase B gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Structure of a human lysosomal sulfatase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Mutational analysis of 105 mucopolysaccharidosis type VI patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.11.003

10.1016/J.YMGME.2011.11.003

7 January 2021

Identifiers

DOI

1 reference

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17 January 2020

1 reference