Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease (Q35570481)

8 August 2017

title

Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease (English)

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8 August 2017

Mize CE

1

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8 August 2017

Herndon JH Jr

2

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8 August 2017

Blass JP

3

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8 August 2017

Milne GW

4

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8 August 2017

Follansbee C

5

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8 August 2017

Laudat P

6

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8 August 2017

Steinberg D

7

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8 August 2017

language of work or name

English

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publication date

1 June 1969

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Journal of Clinical Investigation

8 August 2017

published in

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8 August 2017

volume

48

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8 August 2017

issue

6

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8 August 2017

page(s)

1033-1040

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[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDR

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322317

The fate of phytanic acid when administered to rats.

12 July 2018

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Alpha-oxidation of a beta-methyl-substituted fatty acid in guinea-pig liver mitochondria.

12 July 2018

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Refsum's disease: characterization of the enzyme defect in cell culture

12 July 2018

1 reference

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Effects of dietary phytol and phytanic acid in animals

12 July 2018

1 reference

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Studies on the metabolic error in Refsum's disease

12 July 2018

1 reference

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

12 July 2018

1 reference

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The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322317

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

12 July 2018

1 reference

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3,7,11,15-tetramethylhexadecanoic acid: its occurrence in the tissues of humans afflicted with Refsum's syndrome

12 July 2018

1 reference

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Alpha-oxidation as an alternative pathway for the degradation of branched-chain fatty acids in man, and its failure in patients with Refsum's disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322317

Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis

26 September 2018

1 reference

12 December 2020

Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis

1 reference

12 December 2020

The ability of patients with herdopathia atactica polyneuritiformis to alpha-oxidize and degrade several isoprenoid branch-chained fatty structures

1 reference

12 December 2020

Refsum's disease--a recently characterized lipidosis involving the nervous system. Combined clinical staff conference at the National Institutes of Health

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12 December 2020

Alpha-decarboxylation, an important pathway for degradation of phytanic acid in animals

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12 December 2020

Metabolism of phytol-U-14C and phytanic acid-U-14C in the rat

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12 December 2020

[Refsum's syndrome. Study of lipids in serum and urine]

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12 December 2020

A pathway for oxidative degradation of phytanic acid in mammals

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12 December 2020

Absorption and metabolism of uniformly 14C-labeled phytol and phytanic acid by the intestine of the rat studied with thoracic duct cannulation

1 reference

12 December 2020

The formation of alpha-hydroxy phytanic acid from phytanic acid in mammalian tissues

1 reference

12 December 2020

Refsum's disease: nature of the enzyme defect

1 reference

12 December 2020

Refsum's syndrome affecting a brother and two sisters

1 reference

12 December 2020

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)--A DEFECT IN THE OMEGA-OXIDATION MECHANISM OF FATTY ACIDS

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

Identifiers

DOI

10.1172/JCI106059

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8 August 2017

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8 August 2017

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