(Q36822452)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

review article

1 reference

title

Novel therapeutic targets for the treatment of Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

Carla E M Hollak

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Anouk C Vedder

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Gabor E Linthorst

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

English

0 references

publication date

1 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

Expert Opinion on Therapeutic Targets

30 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

821-833

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

Prevalence of lysosomal storage disorders

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

21 January 2018

1 reference

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Natural history of Fabry disease in females in the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

alpha-Galactosidase A deficient mice: a model of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

21 January 2018

1 reference

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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.

21 January 2018

1 reference

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Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

21 January 2018

1 reference

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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

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Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Cellular and tissue distribution of intravenously administered agalsidase alfa

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Effect of genetic modifiers on cerebral lesions in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

21 January 2018

Pediatric Fabry disease

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Inhibition of HIV and SIV infectivity by blockade of α-glucosidase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Preselective gene therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Immune responses to gene therapy vectors: influence on vector function and effector mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Multiple reduced-intensity conditioning regimens facilitate correction of Fabry mice after transplantation of transduced cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

A look to future directions in gene therapy research for monogenic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14728222.11.6.821

10.1517/14728222.11.6.821

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17504019%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference