(Q53341440)

13 May 2018

title

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. (English)

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13 May 2018

author

Chang-Seok Ki

3

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13 May 2018

author name string

Hyung-Doo Park

1

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13 May 2018

Ah-Ra Ko

2

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13 May 2018

Soo-Youn Lee

4

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13 May 2018

Jong-Won Kim

5

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13 May 2018

Sung Yoon Cho

6

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13 May 2018

Se Hwa Kim

7

1 reference

13 May 2018

Sung Won Park

8

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13 May 2018

Young Bae Sohn

9

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13 May 2018

Dong-Kyu Jin

10

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13 May 2018

language of work or name

English

0 references

publication date

8 February 2013

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13 May 2018

American Journal of Medical Genetics

published in

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13 May 2018

volume

161A

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13 May 2018

issue

3

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13 May 2018

page(s)

509-517

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13 May 2018

Variable clinical presentation in lysosomal storage disorders

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

21 January 2018

1 reference

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Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Prevalence of lysosomal storage disorders

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35298

International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Growth charts for patients affected with Morquio A disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Enzyme replacement therapy in a murine model of Morquio A syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35298

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35298

1 reference

13 May 2018

PubMed ID

23401410

1 reference

13 May 2018