(Q90135254)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

title

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database (English)

1 reference

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11 April 2020

2

1 reference

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11 April 2020

Ana Rath

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

author name string

Stéphanie Nguengang Wakap

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Annie Olry

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Charlotte Rodwell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Charlotte Gueydan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Valérie Lanneau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Daniel Murphy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

Yann Le Cam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

publication date

16 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 April 2020

published in

1 reference

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11 April 2020

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

page(s)

165-173

1 reference

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11 April 2020

issue

2

1 reference

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How did uncommon disorders become 'rare diseases'? History of a boundary object

11 April 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Defining rare diseases in China

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoid.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Rare disease policies to improve care for patients in Europe

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region's rare diseases registry

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

The burden of rare diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Rare cancers are not so rare: the rare cancer burden in Europe.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0508-0

7 January 2021

Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/31527858

12 December 2020

inferred from PubMed ID database lookup

Public Health and Rare Diseases: Oxymoron No More

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/31527858

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41431-019-0508-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31527858%20AND%20SRC:MED&resulttype=core&format=json

11 April 2020

1 reference