(Q52220838)

English

Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.

scientific article published in January 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

author name string

M A Herbert

1

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

P T Clayton

2

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

publication date

1 January 1994

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

17

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

2

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

211-214

1 reference

Europe PubMed Central

PubMed publication ID

27 April 2018

http://europepmc.org/abstract/MED/7526031

Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/7526031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/7526031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of Refsum's disease. Phytanic acid oxidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/7526031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The inborn errors of peroxisomal beta-oxidation: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/7526031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/7526031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00711620

1 reference

https://api.fatcat.wiki/v0/release/3n5qt6echvaetgvc2jxxjcrsca

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_3n5qt6echvaetgvc2jxxjcrsca

1 reference

https://api.fatcat.wiki/v0/release/3n5qt6echvaetgvc2jxxjcrsca

30 July 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

https://api.fatcat.wiki/v0/release/3n5qt6echvaetgvc2jxxjcrsca

30 July 2022

based on heuristic

mapped directly with Wikidata item

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