Refsum's disease: characterization of the enzyme defect in cell culture (Q35570445)

8 August 2017

title

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

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8 August 2017

Herndon JH Jr

1

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8 August 2017

Steinberg D

series ordinal

2

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8 August 2017

Uhlendorf BW

series ordinal

3

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8 August 2017

Fales HM

series ordinal

4

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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)

1017-1032

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Thealpha-oxidation system of brain microsomes. Cofactors foralpha-hydroxy acid decarboxylation

8 August 2017

cites work

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Protein measurement with the Folin phenol reagent

27 July 2018

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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

27 July 2018

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Amino acid metabolism in mammalian cell cultures

27 July 2018

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A relation between non-esterified fatty acids in plasma and the metabolism of glucose

27 July 2018

1 reference

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Plaque formation and isolation of pure lines with poliomyelitis viruses

27 July 2018

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

27 July 2018

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Relative contributions of alpha-, beta-, and omega-oxidative pathways to in vitro fatty acid oxidation in rat liver

27 July 2018

1 reference

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Cell membranes--composition: structure: function

27 July 2018

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

27 July 2018

1 reference

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Hydroxy fatty acid metabolism in brain

27 July 2018

1 reference

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Lipid composition of the nervous system in Refsum's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322316

Effects of dietary phytol and phytanic acid in animals.

27 July 2018

1 reference

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Studies on the metabolic error in Refsum's disease

27 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.

27 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).

27 July 2018

1 reference

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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.

27 July 2018

1 reference

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ISOTOPIC STUDIES OF THE BIOSYNTHESIS OF THE CEREBROSIDE FATTY ACIDS IN RATS

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322316

AN ALPHA-HYDROXY ACID DECARBOXYLASE IN BRAIN MICROSOMES

26 September 2018

1 reference

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The fate of phytanic acid when administered to rats.

26 September 2018

1 reference

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The occurrence of 4,8,12-trimethyltridecanoic acid in the tissues of rats fed high levels of phytanic acid

26 September 2018

1 reference

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The action of lipoprotein lipase on glyceryl-triphytanate

26 September 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.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=322316

Refsum's disease: nature of the enzyme defect

26 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

Absolute Stereochemical Configuration of Phytanyl (Dihydrophytyl) Groups in Lipids of Halobacterium cutirubrum*

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

A pathway for oxidative degradation of phytanic acid in mammals

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

Investigation on lipid separation methods. Separation of phospholipids from neutral fat and fatty acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

Refsum's syndrome affecting a brother and two sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

STUDIES ON THE BACTERIAL DEGRADATION OF ISOPRENOID COMPOUNDS. II. THE ROLE OF CARBON DIOXIDE

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

THE MEASUREMENT OF I131-SERUM ALBUMIN UPTAKE BY TUMOR CELLS IN TISSUE CULTURE

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

A new approach to radioassay of aqueous solutions in the liquid scintillation spectrometer

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

The utilization of proteins by cultured human cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

Relationship between fatty acid and glucose utilization in Ehrlich ascites tumor cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/4181593

12 December 2020

Identifiers

DOI

10.1172/JCI106058

1 reference

8 August 2017

1 reference

8 August 2017

1 reference