(Q27025186)

language of work or name

1 reference

2013

1 reference

Rare diseases (Austin, Tex.)

published in

1 reference

volume

1

1 reference

page(s)

e26690

1 reference

The ethics of placebo-controlled trials--a middle ground

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Therapeutic approaches for lysosomal storage diseases

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Diagnosing the decline in pharmaceutical R&D efficiency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Benefits, challenges and obstacles of adaptive clinical trial designs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Pricing and reimbursement of orphan drugs: the need for more transparency

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Characteristics of clinical trials to support approval of orphan vs nonorphan drugs for cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Accelerated approval of oncology products: the food and drug administration experience

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

The value and benefits of the International Conference on Harmonisation to drug regulatory authorities: advancing harmonization for better public health.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Disease registries and outcomes research in children: focus on lysosomal storage disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Accelerating orphan drug development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Enrichment of clinical study populations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

The paradoxical problem with multiple-IRB review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Economic considerations in the provision of treatments for rare diseases.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

A randomized study of alglucosidase alfa in late-onset Pompe's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Clinical research for rare disease: opportunities, challenges, and solutions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Surrogate end points in clinical trials: are we being misled?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Absence of evidence is not evidence of absence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Cholesterol in the prediction of atherosclerotic disease. New perspectives based on the Framingham study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Conditional approval and approval under exceptional circumstances as regulatory instruments for stimulating responsible drug innovation in Europe

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Clinical trials and rare diseases

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

European regulation on orphan medicinal products: 10 years of experience and future perspectives.

31 May 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

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/10.4161%2FRDIS.26690

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

A validated disease severity scoring system for Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Statistical consideration of adaptive methods in clinical development.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Viewpoints on the FDA draft adaptive designs guidance from the PhRMA working group

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Pompe disease: Design, methodology, and early findings from the Pompe Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FRDIS.26690

Adopting orphan drugs--two dozen years of treating rare diseases.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3915565

Reforming accelerated approval

28 November 2018

1 reference

12 December 2020

Europe sets out to reform its clinical trial rules

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020