(Q44402702)

2 December 2017

title

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease (English)

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2 December 2017

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1

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2 December 2017

4

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2 December 2017

L-W Lai

2

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2 December 2017

O Whitehair

series ordinal

3

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2 December 2017

S-C Chiang

series ordinal

5

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2 December 2017

Y-H H Lien

series ordinal

6

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2 December 2017

language of work or name

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1 March 2003

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2 December 2017

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2 December 2017

volume

63

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2 December 2017

issue

3

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2 December 2017

page(s)

205-209

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Enzymatic Defect in Fabry's Disease

2 December 2017

cites work

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Fabry disease: 20 novel GLA mutations in 35 families

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00050.X

7 January 2021

10.1034/J.1399-0004.2003.00050.X

Identifiers

DOI

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2 December 2017

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