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An Ultra-rare Disease? Where Do We Go from Here?
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
title
An Ultra-rare Disease? Where Do We Go from Here?
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
main subject
rare disease
0 references
author name string
Glenn Irvine
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
Ginger Irvine
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
publication date
1 November 2013
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
published in
Tremor and other hyperkinetic movements
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
volume
3
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
cites work
Neuroacanthocytosis syndromes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
A conserved sorting-associated protein is mutant in chorea-acanthocytosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
Hereditary neurological disease with acanthocytosis. A new syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
Acanthocytosis and neurological disorder without betalipoproteinemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
6 September 2017
Chorein detection for the diagnosis of chorea-acanthocytosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
14 September 2017
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3822404
retrieved
20 October 2018
Identifiers
DOI
10.7916/D8GB22R8
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
PMCID
3822404
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
PubMed ID
24255804
1 reference
stated in
Europe PubMed Central
PMCID
3822404
retrieved
19 August 2017
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