Literature DB >> 6186632

Refsum disease. Clinical and morphological report on a case.

G Savettieri, R Camarda, S Galatioto, V Bonavita.   

Abstract

An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.

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Year:  1982        PMID： 6186632     DOI： 10.1007/bf02043317

Source DB:  PubMed          Journal:  Ital J Neurol Sci        ISSN： 0392-0461


  7 in total

1.  [Refsum's disease].

Authors:  L Canestrini; F Fiume Garelli
Journal:  Riv Neurol       Date:  1967 Nov-Dec

2.  Ultrastructural study of a peripheral nerve biopsy in Refsum's disease.

Authors:  M Fardeau; W K Engel
Journal:  J Neuropathol Exp Neurol       Date:  1969-04       Impact factor: 3.685

3.  [Anatomical documents concerning a case of Refsum's disease].

Authors:  J Lapresle; H X Man; R Metreau
Journal:  Rev Neurol (Paris)       Date:  1974 Mar-Apr       Impact factor: 2.607

4.  Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969).

Authors:  E Joosten; F Gabreëls; A Gabrèèls-Festen; G Vrensen; J Korten; S Notermans
Journal:  Acta Neuropathol       Date:  1974-02-28       Impact factor: 17.088

5.  [Refsum's disease. First Italian case. Preliminary communication].

Authors:  L Canestrini; F Fiume Garelli
Journal:  Riv Neurol       Date:  1965 May-Jun

6.  Effects of dietary phytol and phytanic acid in animals.

Authors:  D Steinberg; J Avigan; C E Mize; J H Baxter; J Cammermeyer; H M Fales; P F Highet
Journal:  J Lipid Res       Date:  1966-09       Impact factor: 5.922

7.  Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy.

Authors:  J CAMMERMEYER
Journal:  J Neuropathol Exp Neurol       Date:  1956-07       Impact factor: 3.685
  7 in total
  2 in total

1.  A case of Refsum disease with atypical clinical picture in family members.

Authors:  R Marano; P Soliveri; B Garavaglia; A Antonelli; F Girotti
Journal:  Ital J Neurol Sci       Date:  1989-08

2.  Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Authors:  B T Poll-The; O H Skjeldal; O Stokke; A Poulos; F Demaugre; J M Saudubray
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132
  2 in total

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