Literature DB >> 14320689

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.

R RICHTERICH, P VANMECHELEN, E ROSSI.   

Abstract

Entities:  

Keywords:  ATAXIA; BLOOD; CATARACT; CEREBROSPINAL FLUID; CHILD; DEAFNESS; ENZYME TESTS; FATTY ACIDS; GENETICS, HUMAN; HEMERALOPIA; LIPID METABOLISM, INBORN ERRORS; MENTAL RETARDATION; MUSCULAR ATROPHY; REFSUM'S SYNDROME; SPEECH DISORDERS

Mesh：

Substances：

Year:  1965        PMID： 14320689     DOI： 10.1016/0002-9343(65)90046-x

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


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  10 in total

1.  Neonatal adrenoleukodystrophy.

Authors:  P Aubourg; J Scotto; F Rocchiccioli; D Feldmann-Pautrat; O Robain
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-01       Impact factor: 10.154

2.  Phytanic acid in Refsum's syndrome.

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

3.  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

4.  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 5.  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

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

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

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

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

8.  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

9.  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

10.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791
  10 in total

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