(Q38946959)

7 September 2017

Patterns of Refsum's disease. Phytanic acid oxidase deficiency (English)

1 reference

7 September 2017

A. Poulos

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

27 August 2023

A. C. Pollard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

27 August 2023

J. D. Mitchell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

27 August 2023

G. Wise

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

27 August 2023

G. Mortimer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

27 August 2023

language of work or name

English

0 references

publication date

1 March 1984

1 reference

PMC publication ID

1628542

full work available at URL

7 September 2017

https://europepmc.org/articles/PMC1628542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

https://europepmc.org/articles/PMC1628542?pdf=render

27 August 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6201142

https://syndication.highwire.org/content/doi/10.1136/adc.59.3.222

27 August 2023

1 reference

https://api.crossref.org/works/10.1136/ADC.59.3.222

Archives of Disease in Childhood

27 August 2023

published in

1 reference

7 September 2017

59

1 reference

7 September 2017

3

1 reference

7 September 2017

222-229

1 reference

A simple method for the isolation and purification of total lipides from animal tissues

7 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Chronic otitis media with effusion (glue ear) and adenotonsillectomy: prospective randomised controlled study.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Studies on the metabolic error in Refsum's disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid. A review of the clinical findings

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Studies on the alpha oxidation of phytanic acid by rat liver mitochondria

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Refsum's disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3,7,11,15 tetramethyl hexadecanoic acid formal genetics.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1628542

Refsum's disease: nature of the enzyme defect

21 August 2018

1 reference

12 December 2020

The quantitation of plasma phytanic acid by mass fragmentography

1 reference

12 December 2020

Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management

1 reference

12 December 2020

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate

1 reference

12 December 2020

Heredopathia atactica polyneuritiformis

1 reference

12 December 2020

REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER

1 reference

12 December 2020

REFSUM'S SYNDROME.--LIPOID CHEMICAL RESEARCH IN 9 CASES

1 reference

12 December 2020

Heredopathia atactica polyneuritiformis in children

https://api.crossref.org/works/10.1136/ADC.59.3.222

4

1 reference

27 August 2023

Identifiers

DOI

10.1136/ADC.59.3.222

1 reference

7 September 2017

1 reference

PMC publication ID

1628542

7 September 2017

1 reference

PMC publication ID

1628542