(Q79319186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

6

Robert J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Makiko Yasuda

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Junaid Shabbeer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Stacy D Benson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Irene Maire

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Roger M Burnett

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

1 December 2003

1 reference

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21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

22

1 reference

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21 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

486-492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

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

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Structural basis of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Mutation analysis in 11 French patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Nucleotide sequence of the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

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/10.1002%2FHUMU.10275

7 January 2021

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Structural organization and complete sequence of the human α-N-acetylgalactosaminidase gene: Homology with the α-galactosidase A gene provides evidence for evolution from a common ancestral gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10275

7 January 2021

Identifiers

DOI

10.1002/HUMU.10275

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14635108%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference