Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report (Q21093154)

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4 January 2020

title

Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case report (English)

1 reference

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4 January 2020

1 reference

1 reference

1

Hari Jayaram

Hari

Jayaram

1 reference

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4 January 2020

Susan M Downes

2

Susan M

Downes

1 reference

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4 January 2020

language of work or name

English

0 references

publication date

12 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18336720%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Case Reports

4 January 2020

published in

1 reference

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4 January 2020

volume

2

1 reference

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4 January 2020

issue

1

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page(s)

80

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Creative Commons Attribution 2.0 Generic

4 January 2020

copyright license

start time

12 March 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1752-1947-2-80

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1752-1947-2-80

cites work

Identification of PEX7 as the second gene involved in Refsum disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Identification of PAHX, a Refsum disease gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Smell testing: an additional tool for identification of adult Refsum's disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Alpha-oxidation of branched chain fatty acids in man and its failure in patients with Refsum's disease showing phytanic acid accumulation.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Prevalence of retinitis pigmentosa and allied disorders in Denmark

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1752-1947-2-80

Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1752-1947-2-80

Cutaneous Aspects of Refsum's Disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2275283

Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis)

29 November 2018

1 reference

12 December 2020

Heredopathia atactica polyneuritiformis: Refsum's disease

1 reference

12 December 2020

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

1 reference

12 December 2020

Refsum's disease revealed by cardiac disorders

1 reference

12 December 2020

Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1752-1947-2-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18336720%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 January 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1752-1947-2-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18336720%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference