Literature DB >> 14320690

REFSUM'S DISEASE (HERECOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. II. ISOLATION AND IDENTIFICATION OF THE STORAGE PRODUCT.

W KAHLKE, R RICHTERICH.   

Abstract

Entities:  

Keywords:  ADIPOSE TISSUE; ATAXIA; BLOOD; CHILD; CHROMATOGRAPHY; FATTY ACIDS; HISTOCYTOCHEMISTRY; KIDNEY; LIPID METABOLISM, INBORN ERRORS; LIVER; MUSCLES; REFSUM'S SYNDROME; URINE

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Year:  1965        PMID： 14320690     DOI： 10.1016/0002-9343(65)90047-1

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  7 in total

1.  Phytanic acid in Refsum's syndrome.

Authors:  W S Alexander
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-10       Impact factor: 10.154

2.  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

3.  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

Review 4.  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.

Authors:  R Richterich; H Moser; E Rossi
Journal:  Humangenetik       Date:  1965

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

Authors:  R Richterich; S Rosin; E Rossi
Journal:  Humangenetik       Date:  1965

6.  [Diagnosis and differential diagnosis of heredopathia atactica polyneuritiformis].

Authors:  S Refsum
Journal:  Dtsch Z Nervenheilkd       Date:  1969

7.  Refsum's syndrome: report of three cases.

Authors:  C D Quinlan; E A Martin
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-12       Impact factor: 10.154
  7 in total

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