Literature DB >> 14285926

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

L ELDJARN.   

Abstract

Entities:  

Keywords:  ADOLESCENCE; ATAXIA; BLOOD; CHROMATOGRAPHY; ENZYMES; FATTY ACIDS; GENETICS, HUMAN; LIPID METABOLISM, INBORN ERRORS; REFSUM'S SYNDROME; URINE

Mesh：

Substances：

Year:  1965        PMID： 14285926     DOI： 10.1080/00365516509077305

Source DB:  PubMed          Journal:  Scand J Clin Lab Invest        ISSN： 0036-5513            Impact factor:   1.713


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  8 in total

1.  Natural history of Refsum's syndrome in a Gloucestershire family.

Authors:  A M Campbell; E R Williams
Journal:  Br Med J       Date:  1967-09-23

2.  Refsum's disease: a disorder of lipid metabolism.

Authors:  M Rake; M Saunders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-10       Impact factor: 10.154

3.  Inborn errors of metabolism in neurology (Wilson's disease, Refsum's disease and lipidoses).

Authors:  J N Cumings
Journal:  Proc R Soc Med       Date:  1971-03

4.  [Lipid studies in organs of a child with Refsum's syndrome].

Authors:  G J Kremer
Journal:  Klin Wochenschr       Date:  1966-09-15

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

Authors:  J H Herndon; D Steinberg; B W Uhlendorf; H M Fales
Journal:  J Clin Invest       Date:  1969-06       Impact factor: 14.808

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

Authors:  C E Mize; J H Herndon; J P Blass; G W Milne; C Follansbee; P Laudat; D Steinberg
Journal:  J Clin Invest       Date:  1969-06       Impact factor: 14.808

7.  Studies on the metabolic error in Refsum's disease.

Authors:  D Steinberg; C E Mize; J Avigan; H M Fales; L Eldjarn; K Try; O Stokke; S Refsum
Journal:  J Clin Invest       Date:  1967-03       Impact factor: 14.808

8.  Peroxisome biogenesis disorders.

Authors:  Catherine Argyriou; Maria Daniela D'Agostino; Nancy Braverman
Journal:  Transl Sci Rare Dis       Date:  2016-11-07
  8 in total

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