(Q35080882)

6 August 2017

title

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. (English)

1 reference

6 August 2017

Seiji Saito

1

1 reference

6 August 2017

Kazuki Ohno

series ordinal

2

1 reference

6 August 2017

Hitoshi Sakuraba

series ordinal

3

1 reference

6 August 2017

language of work or name

English

0 references

publication date

26 December 2013

1 reference

6 August 2017

1 reference

6 August 2017

volume

8

1 reference

6 August 2017

issue

12

1 reference

6 August 2017

page(s)

e84267

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Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

26 December 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Newborn screening for lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Structure-function relationships in alpha-galactosidase A.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

High incidence of later-onset fabry disease revealed by newborn screening

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3873411

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0084267

Analysis and Application of Potential Energy Smoothing and Search Methods for Global Optimization

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0084267

Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0084267

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0084267

Calculation of the reaction field due to off-center point multipoles

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0084267

Structural characterization of mutant alpha-galactosidases causing Fabry disease

21 January 2018

1 reference

12 December 2020

Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0084267

Identifiers

DOI

1 reference

release_oedtx7ep6bdhvndvoa4p46n3nu

6 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oedtx7ep6bdhvndvoa4p46n3nu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3873411

1 reference

6 August 2017

1 reference