Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders (Q35009083)

5 August 2017

6 references

24 March 2019

22 April 2019

30 June 2019

19 September 2019

1 September 2020

7 February 2024

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

1 reference

lysosomal storage disease

5 August 2017

5 references

24 March 2019

22 April 2019

30 June 2019

19 September 2019

1 September 2020

biomedical investigative technique

1 reference

19 September 2019

1 reference

1 September 2020

3

Ségolène Aymé

1 reference

5 August 2017

Carla E M Hollak

1

1 reference

5 August 2017

Johannes M F G Aerts

series ordinal

2

1 reference

5 August 2017

Jeremy Manuel

series ordinal

4

1 reference

5 August 2017

language of work or name

1 reference

16 April 2011

7 references

Orphanet Journal of Rare Diseases

5 August 2017

24 March 2019

22 April 2019

30 June 2019

19 September 2019

1 September 2020

7 February 2024

7 references

5 August 2017

24 March 2019

22 April 2019

30 June 2019

19 September 2019

1 September 2020

7 February 2024

6

1 reference

5 August 2017

16

1 reference

Creative Commons Attribution 2.0 Generic

5 August 2017

6 references

24 March 2019

22 April 2019

30 June 2019

19 September 2019

1 September 2020

on focus list of Wikimedia project

7 February 2024

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-16

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Patient registries: utility, validity and inference

8 July 2018

1 reference

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Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Vasculopathy in patients with Fabry disease: current controversies and research directions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher 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=3102605

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

8 July 2018

1 reference

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

8 July 2018

1 reference

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Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

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=3102605

A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Prevalence of lysosomal storage diseases in Portugal

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

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=3102605

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

The frequency of lysosomal storage diseases in The Netherlands.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Prevalence of lysosomal storage disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102605

Conditional approval: discussion points from the PSI conditional approval expert group.

8 July 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

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/10.1186%2F1750-1172-6-16

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

The value of estimated GFR in comparison to measured GFR for the assessment of renal function in adult patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

The cost of treating Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-16

Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21496291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical benefit of enzyme replacement therapy in Fabry disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21496291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21496291

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-6-16

1 reference

Dimensions Publication ID

5 August 2017

0 references

0 references

1 reference

5 August 2017

1 reference