(Q33567658)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

title

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

Maria Cecilia Della Valle

23 March 2020

author

2

1 reference

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23 March 2020

Hadis Williams

8

1 reference

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23 March 2020

Daniel-G. Bichet

10

1 reference

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23 March 2020

Dominique P Germain

11

1 reference

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23 March 2020

Roberto Giugliani

12

1 reference

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23 March 2020

Derralynn A Hughes

13

1 reference

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23 March 2020

William R Wilcox

15

1 reference

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23 March 2020

Jay Barth

18

1 reference

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23 March 2020

Jeff Castelli

21

1 reference

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23 March 2020

David J Lockhart

22

1 reference

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23 March 2020

16

Robert J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

author name string

Elfrida R Benjamin

1

1 reference

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23 March 2020

Xiaoyang Wu

3

1 reference

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23 March 2020

Evan Katz

4

1 reference

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23 March 2020

Farhana Pruthi

5

1 reference

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23 March 2020

Sarah Bond

6

1 reference

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23 March 2020

Benjamin Bronfin

7

1 reference

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23 March 2020

Julie Yu

9

1 reference

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23 March 2020

Raphael Schiffmann

14

1 reference

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23 March 2020

John Kirk

17

1 reference

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23 March 2020

Carrolee Barlow

19

1 reference

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23 March 2020

Kenneth J Valenzano

20

1 reference

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23 March 2020

language of work or name

English

0 references

publication date

22 September 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

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23 March 2020

volume

19

1 reference

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23 March 2020

issue

4

1 reference

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23 March 2020

page(s)

430-438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2016.122

23 March 2020

exact match

0 references

cites work

Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Novel quantitative method to evaluate globotriaosylceramide inclusions in renal peritubular capillaries by virtual microscopy in patients with fabry disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Screening for pharmacological chaperones in Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Enzyme replacement and enhancement therapies for lysosomal diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Diagnostic tests 2: Predictive values

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Diagnostic tests. 1: Sensitivity and specificity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5392595

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

X-chromosome inactivation in female patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

Effect of genetic modifiers on cerebral lesions in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2016.122

Enzymatic Defect in Fabry's Disease

21 January 2018

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

1 reference

12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2016.122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

release_zygazsj37bgjzaw7j5pw3q3qgi

23 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zygazsj37bgjzaw7j5pw3q3qgi

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27657681%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference